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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056272/
https://www.ncbi.nlm.nih.gov/pubmed/32073399
http://dx.doi.org/10.7554/eLife.48705

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056272/
https://www.ncbi.nlm.nih.gov/pubmed/32073399
http://dx.doi.org/10.7554/eLife.48705

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