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premature coronary heart disease แตผปวย homozygous FH จะมระดบคอเลสเทอรอลในเลอดสงมากและมความรนแรงของโรคมากกวา พบวามกจะเสยชวตดวยโรคหวใจกอนอายครบ 20 ป (Leitersdorf et al 1990 Helen et al 1992 Hoeg et al 1993 Jensen et al 1996)
โครงสรางของ LDL ลโพโปรตนชนด LDL สงเคราะหขนใน
กระแสเลอดจาก very low density lipoprotein (VLDL) และ intermediate density lipoprotein (IDL) อนภาคม apo B-100 และลพดประกอบไปดวยคอเลสเทอรอลทงทอยในรปของคอเลสเทอรอลอสระและคอเลสเทอรลเอสเทอร ซงพบเปนองคประกอบมากทสด มไทรกลเซอไรดลดลง (ภาพท 1) โดย LDL จะมปรมาณคอเลสเทอรอลเปน 2 ใน 3 ของปรมาณคอเลสเทอรอลทงหมดในกระแสเลอด ดงนน LDL จงมบทบาทสาคญในการขนสง คอเลสเทอรอลไปยงเนอเยอตางๆ ของรางกาย
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
premature coronary heart disease แตผปวย homozygous FH จะมระดบคอเลสเทอรอลในเลอดสงมากและมความรนแรงของโรคมากกวา พบวามกจะเสยชวตดวยโรคหวใจกอนอายครบ 20 ป (Leitersdorf et al 1990 Helen et al 1992 Hoeg et al 1993 Jensen et al 1996)
โครงสรางของ LDL ลโพโปรตนชนด LDL สงเคราะหขนใน
กระแสเลอดจาก very low density lipoprotein (VLDL) และ intermediate density lipoprotein (IDL) อนภาคม apo B-100 และลพดประกอบไปดวยคอเลสเทอรอลทงทอยในรปของคอเลสเทอรอลอสระและคอเลสเทอรลเอสเทอร ซงพบเปนองคประกอบมากทสด มไทรกลเซอไรดลดลง (ภาพท 1) โดย LDL จะมปรมาณคอเลสเทอรอลเปน 2 ใน 3 ของปรมาณคอเลสเทอรอลทงหมดในกระแสเลอด ดงนน LDL จงมบทบาทสาคญในการขนสง คอเลสเทอรอลไปยงเนอเยอตางๆ ของรางกาย
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
หมชนดตางๆ (Goldstein et al 1989 Marks et al 1996 Montgomery et al 1996 httpwww ipekrabiacthElearningsumonlipiddoc) นอกจาก นปรมาณคอเลสเทอรอลทเพมขนในเซลลจะมผลตอระบบตางๆ ภายในเซลลดงน
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
และ SREBP จะอยทเยอหมของ RER (ภาพท 10) ถาไมม sterol ภายในเซลลกระบวนการถอดรหสของยนใน LDL receptor เพมขน ในขณะทถามคอเลส- เทอรอล กระบวนการถอดรหสของยนใน LDL receptor ลด ลง (Goldstein et al 1989 Makar et al 1998 Edwards et al 2000) ดงนนเมอระดบคอเลส- เทอรอลภายในเซลลเพมขนการสราง LDL receptor ภายใน เซลล ลดลง ในทางก ลบกนถ า ระ ดบ คอเลสเทอรอลภายในเซลลลดลงการสราง LDL receptor ภายในเซลลเพมขน
ภาพท 10 วถของ SREBP ทมา (Goldstein et al 1989)
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 95
การแบงประเภทของการกลายพนธในยนของ LDL receptor
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
ลกษณะปรากฏ (phenotype) อนเนองมา จากมความผดปกตของยนในการสงเคราะห LDL receptor แบงได 5 ประเภท (ภาพท 11) (Brown et al 1986 Goldstein et al 1989 Soutar et al 1998)
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
Athanikar JN and Osborne TF (1998) Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein Proc Natl Acad Sci USA 95(suppl)(9) 4930-4935
Brown MS and Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis Science 232(4746) 34-47
Cearro A Jensen HK Casao E Civera F Bonillo JG and Pocovi M (1996) Identification of a novel mutations in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families Biochim Biophys Acta 1316(1) 1-4
Davis CG Goldstein JL Sudhof TC Anderson RGW Russell DW and Brown MS (1987) Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760-765
Edwards PA Tabor D Kast HR and Venkateswaran A (2000) Regulation of gene expression by SREBP and SCAP Biochemica Biophysica Acta 1529(1-3) 103-113
Goldstein JL and Brown MS (1989) The metabolic and molecular bases of inherited disease (6th ed) New York Mc Graw-Hill
Grundy SM (1990) Cholesterol and atherosclerosis diagnosis and treatment New York Lippincott
Health KE Gahan M Whittall RA and Humpries SE (2001) Low-density lipoprotein receptor gene (LDLR) world-wide website in familial
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 99
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
hypercholesterolemia update new features and mutations analysis Atherosclerosis 154(1) 243-246
Helen H Hobbs HH Michael S and Brown JLG (1992) Molecular genetics of the LDL receptor gene and their use in diagnosis of familial hypercholesterolemia Human mutation 1 445-466
Hoeg JM (1993) Homozygous familial hypercholesterolemia a paradigm for phenotypic variation Am J Cardiol 72(10)11D-14D
Jensen HK Jensen LG Health F Hansen PS and Meinertz H (1996) Phenotypic characterization of patient homozygous for the D558N LDL receptor gene mutation Clin Genet 50(5) 388-392
Jeon H Meng W Takagi J Eck MJ Springer T and Stephen CB (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair Nat Struc Biol 8(6) 499-504
Kreisberg RA Segrest JP and Oram JF (1992) Plasma lipoproteins and coronary heart disease (1st ed) London Backwell scientific
Lehrman MA Goldstein JL Brown MS Russel DW and Schneideer WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense
and framshift mutations that truncate the cytoplasmic domain Cell 41(3) 735-743
Leitersdorf E Van der Westhuyzen DR Coetzee GA and Hobbs HH (1989) Two common low-density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84(3) 954-961
Leitersdorf E Tobin EJ Davignon J and Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population J Clin Invest 85(4) 1014-1023
Lind S Eriksson M Rystedt E Wikilund O and Eggertsen G (1998) Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia J Intern Med 244(1) 19-25
Loubser O Marais AD Kotze MJ Godenir N Thiart R and Scholtz CL (1999) Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Clin Genet 55(5) 340-345
Makar RSJ Lipsky PE and Cuthbert JA (1998) Sterol-independent sterol response element-dependent regulation of low density lipoprotein receptor gene expression J Lipid Res 39(8) 1647-1653
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 100
กาวทนโลกวทยาศาสตร ปท 9(1) 2552 101
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48
Marks DB Marks AD and Smith CM (1996) Basic medical biochemistry a clinical approach Baltimore WillamsampWilkins
Montgomery R Conway TW and Spector AA (1996) Biochemistry a clinical approach (6th ed) Baltimore Mosby
Murray KR Granner DK Mayes PA and Rodwell VW (2000) Harperrsquos Biochemistry (25th ed) Stamford AppletonampLange
Nelson DL and Cox MM (2000) Lehninger Principles of Biochemistry (3rd ed) New York Worth Publishers
Poledne R Pisa Z and Berg K (1993) Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children Clin Genet 43(3) 122-126
Soutar AK Knight BL and Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors Proc Natl Acad Sci USA 86(11) 4166-4170
Soutar AK (1998) Update on low density lipoprotein receptor mutations Curr Opin Lipid 9(2)141-147
Villeges L Abifadel M Allard D Rabes JP Thiart R and Kotze MJ (2002) The UMD-LDLR database additions to the software and 490 new entries to the database Hum mutat 20(2) 81-87
Vuorio AF Ojala JP Sarna S Turtila H Tikkanen MJ and Kontula K (1995) Heterozygous familial hypercholesterolemia the influence of the mutation type of the low-density lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237(1) 43-48