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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2015
Fag:
Research Article
Online adgang: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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