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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2015
Assuntos:
Research Article
Acesso em linha: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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