Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

Synaptotagmin-1 (SYT1) is a calcium-binding synaptic vesicle protein that is required for both exocytosis and endocytosis. Here, we describe a human condition associated with a rare variant in SYT1. The individual harboring this variant presented with an early onset dyskinetic movement disorder, sev...

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Publicado en:J Clin Invest
Autores principales: Baker, Kate, Gordon, Sarah L., Grozeva, Detelina, van Kogelenberg, Margriet, Roberts, Nicola Y., Pike, Michael, Blair, Edward, Hurles, Matthew E., Chong, W. Kling, Baldeweg, Torsten, Kurian, Manju A., Boyd, Stewart G., Cousin, Michael A., Raymond, F. Lucy
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2015
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4396464/
https://ncbi.nlm.nih.gov/pubmed/25705886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI79765
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