UvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl) UvA-DARE (Digital Academic Repository) Lipotoxicity in adrenoleukodystrophy Size matters! van de Beek, M.-C. Link to publication Citation for published version (APA): van de Beek, M-C. (2018). Lipotoxicity in adrenoleukodystrophy: Size matters!. General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: https://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. Download date: 07 Jan 2020
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UvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl)
UvA-DARE (Digital Academic Repository)
Lipotoxicity in adrenoleukodystrophySize matters!van de Beek, M.-C.
Link to publication
Citation for published version (APA):van de Beek, M-C. (2018). Lipotoxicity in adrenoleukodystrophy: Size matters!.
General rightsIt is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s),other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons).
Disclaimer/Complaints regulationsIf you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, statingyour reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Askthe Library: https://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam,The Netherlands. You will be contacted as soon as possible.
15017 - Malu-Clair van de Beek_OM.indd 1 27-11-17 16:20
Lipotoxicity in AdrenoleukodystrophySize matters!
Malu-Clair van de Beek
The work described in this thesis was carried out at the Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands. The research was financially supported by grants from the European Leukodystrophy Association (ELA 2014-014-1).
Lipotoxicity in adrenoleukodystrophy Size matters!Malu-Clair van de BeekThesis, University of Amsterdam, AmsterdamISBN: 978-94-6299-757-8Cover design: Malu-Clair van de BeekLay-out design: Ridderprint, The NetherlandsPrinted by Ridderprint, The Netherlands
ter verkrijging van de graad van doctor aan de Universiteit van Amsterdam op gezag van de Rector Magnificus
prof. dr. ir. K.I.J. Maex ten overstaan van een door het College voor Promoties ingestelde commissie,
in het openbaar te verdedigen in de Agnietenkapel op donderdag 11 januari 2018, te 12:00 uur
door Malu-Clair van de Beek geboren te Hilversum
Promotiecommissie
Promotores: Prof. dr. R.J.A. Wanders AMC – Universiteit van Amsterdam Prof. dr. F.A. Wijburg AMC – Universiteit van Amsterdam
Copromotores: Dr. S. Kemp AMC – Universiteit van Amsterdam Prof. dr. B.T. Poll-The AMC – Universiteit van Amsterdam
Overige leden: Prof. dr. C.E.M. Hollak AMC – Universiteit van Amsterdam Prof. dr. R.C.M. Hennekam AMC – Universiteit van Amsterdam Prof. dr. M. Baes Katholieke Universiteit Leuven Prof. dr. A.K. Groen AMC – Universiteit van Amsterdam Dr. F.M. Vaz AMC – Universiteit van Amsterdam Dr. G.E.M.Abbink Vrije Universiteit Amsterdam
Faculteit der Geneeskunde
Table of contents
Chapter 1 Introduction
Chapter 2 Method for measurement of peroxisomal beta-oxidation and de novo C26:0 synthesis activity in living cells using stable-isotope labeled docosanoic acid Peroxisomes: Methods and Protocols (2017) 45-54
Chapter 3 C26:0-carnitine is a new biomarker for adrenoleukodystrophy in mice and men PLoS One (2016) 11(4):e0154597
Chapter 4 Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried bloodspots from newborns and patients with adrenoleukodystrophy Molecular Genetics and Metabolism (2017) doi:10.1016/j.ymgme.2017.10.012
Chapter 5 Lipid-induced endoplasmic reticulum stress in adrenoleukodystrophy Biochimica et Biophysica Acta (2017) 1863(9):2255-65
Chapter 6 Redirecting very long-chain fatty acid synthesis in adrenoleukodystrophy
Chapter 7 Summary, General discussion & Future research
Chapter 8 Nederlandse samenvatting
Appendix Curriculum vitae List of publications PhD portfolio Dankwoord