Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

Mutations in genes encoding synaptic proteins cause many neurodevelopmental disorders, with the majority affecting postsynaptic apparatuses and much fewer in presynaptic proteins. Syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) is an essential component of the presynaptic neurotransmitte...

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Detaylı Bibliyografya
Yayımlandı:eLife
Asıl Yazarlar: Chen, Wu, Cai, Zhao-Lin, Chao, Eugene S, Chen, Hongmei, Longley, Colleen M, Hao, Shuang, Chao, Hsiao-Tuan, Kim, Joo Hyun, Messier, Jessica E, Zoghbi, Huda Y, Tang, Jianrong, Swann, John W, Xue, Mingshan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: eLife Sciences Publications, Ltd 2020
Konular:
Neuroscience
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7056272/
https://ncbi.nlm.nih.gov/pubmed/32073399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.48705
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