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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Veröffentlicht in:J Clin Invest
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2015
Schlagworte:
Research Article
Online Zugang: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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