Identification of an agrin mutation that causes congenital myasthenia and affects synapse function C Huzé, S Bauché, P Richard, F Chevessier, E Goillot, K Gaudon, A Ben Ammar, A Chaboud, I Grosjean, HA Lecuyer, V Bernard, A Rouche, N Alexandri, T Kuntzer, M Fardeau, E Fournier, A Brancaccio, MA Rüegg, J Koenig, B Eymard, L Schaeffer, D Hantaï
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Identification of an agrin mutation that causes congenital myasthenia and affects synapse function C Huzé, S Bauché, P Richard, F Chevessier, E Goillot,
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Identification of an agrin mutation that causes congenital myasthenia and affects synapse functionC Huzé, S Bauché, P Richard, F Chevessier, E Goillot, K Gaudon, A Ben Ammar, A Chaboud, I Grosjean, HA Lecuyer, V Bernard, A Rouche, N Alexandri, T Kuntzer, M Fardeau, E Fournier, A Brancaccio, MA Rüegg, J Koenig, B Eymard, L Schaeffer, D Hantaï
Agrin
2 laminin
††
Nav1.4
ChAT
MuSK
Dok-7AChR
Rapsyn
ColQ
Congenital myasthenic syndromes
group of rare genetic diseases affecting neuromuscular transmission
heterogeneous for inheritance and pathophysiology Several causing genes coding for proteins of the
neuromuscular junction:
Agrin
Heparan sulphate proteoglycan Encoded by AGRN (chromosome 1p36.33) Stably associated with synaptic basal lamina Binds laminin (N-ter), interacts with -dystroglycan and LRP4 (C-
ter) Several splice forms:
• with A/y and B/z inserts when synthetized by motor neurons• without in non-neural cells including muscle and Schwann
cells
Bezakova and Rüegg, Nature Rev Mol Cell Biol (2003) 4:295-309