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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Detalhes bibliográficos
Publicado no:eLife
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2020
Assuntos:
Neuroscience
Acesso em linha: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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