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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2015
Konular:
Research Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller