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

Autor: Wu Chen, Zhao-Lin Cai, Eugene S Chao, Hongmei Chen, Colleen M Longley, Shuang Hao, Hsiao-Tuan Chao, Joo Hyun Kim, Jessica E Messier, Huda Y Zoghbi, Jianrong Tang, John W Swann, Mingshan Xue

Publikováno v: eLife, Vol 9 (2020)

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 esse

Externí odkaz: https://doaj.org/article/5451bf743be645e0ad751bf6c73b334d

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

Autor: Huda Y. Zoghbi, Jessica E Messier, John W. Swann, Eugene S. Chao, Jianrong Tang, Hsiao-Tuan Chao, Zhao-Lin Cai, Mingshan Xue, Shuang Hao, Joo Hyun Kim, Hongmei Chen, Wu Chen, Colleen M Longley

Publikováno v: eLife
eLife, Vol 9 (2020)

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 esse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d9dffae745f64fc035af4f2aeb9bba
http://europepmc.org/articles/PMC7056272

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

Autor: Chen W; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Cai ZL; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Chao ES; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Chen H; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Longley CM; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Program in Developmental Biology, Baylor College of Medicine, Houston, United States., Hao S; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Chao HT; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, United States., Kim JH; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Messier JE; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Zoghbi HY; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; Program in Developmental Biology, Baylor College of Medicine, Houston, United States.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, United States., Tang J; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Swann JW; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, United States., Xue M; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Program in Developmental Biology, Baylor College of Medicine, Houston, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.

Publikováno v: ELife [Elife] 2020 Feb 19; Vol. 9. Date of Electronic Publication: 2020 Feb 19.