Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Eugene S Chao"'
Autor:
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Armando Rivera, Frank Rigo, Paymaan Jafar-nejad, Arthur L Beaudet, Matthew S Caudill, Mingshan Xue
Publikováno v:
eLife, Vol 12 (2023)
UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A. Indeed, Angelman syn
Externí odkaz:
https://doaj.org/article/aba3381792b34656adb654c46bc529f1
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
Autor:
Xiangling Meng, Wei Wang, Hui Lu, Ling-jie He, Wu Chen, Eugene S Chao, Marta L Fiorotto, Bin Tang, Jose A Herrera, Michelle L Seymour, Jeffrey L Neul, Fred A Pereira, Jianrong Tang, Mingshan Xue, Huda Y Zoghbi
Publikováno v:
eLife, Vol 5 (2016)
Many postnatal onset neurological disorders such as autism spectrum disorders (ASDs) and intellectual disability are thought to arise largely from disruption of excitatory/inhibitory homeostasis. Although mouse models of Rett syndrome (RTT), a postna
Externí odkaz:
https://doaj.org/article/e9b3e20a7632402da35d66faa9ebbd99
Autor:
Xinming Zhuo, Heet Naresh Kaku, Wu Chen, Dongwon Lee, Eugene S Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Armando Rivera, Frank Rigo, Paymaan Jafar-nejad, Arthur L Beaudet, Matthew S Caudill, Mingshan Xue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4e13c3783756ca698a986118db25056
https://doi.org/10.7554/elife.81892.sa2
https://doi.org/10.7554/elife.81892.sa2
Autor:
Xinming Zhuo, Heet Naresh Kaku, Wu Chen, Dongwon Lee, Eugene S Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Armando Rivera, Frank Rigo, Paymaan Jafar-nejad, Arthur L Beaudet, Matthew S Caudill, Mingshan Xue
Publikováno v:
eLife. 12
UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A. Indeed, Angelman syn
Autor:
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S. Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Frank Rigo, Paymaan Jafar-nejad, Arthur L. Beaudet, Matthew S. Caudill, Mingshan Xue
UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A. Indeed, Angelman syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9939be5cc49103422eea8b002e9eeb35
https://doi.org/10.1101/2022.06.18.496687
https://doi.org/10.1101/2022.06.18.496687
Heterozygous pathogenic variants in syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) cause STXBP1 encephalopathy and are among the most frequent causes of developmental and epileptic encephalopathies and intellectual disabilities. STXBP1 i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35e3fcc66c0f9d0ba94c915bbf3e8fa0
https://doi.org/10.1101/2021.07.13.452234
https://doi.org/10.1101/2021.07.13.452234
Autor:
Eugene S. Chao, Colleen M Longley, Jianrong Tang, Zhao-Lin Cai, Huda Y. Zoghbi, Joo Hyun Kim, Jessica E Messier, Hongmei Chen, John W. Swann, Wu Chen, Hsiao-Tuan Chao, Shuang Hao, Mingshan Xue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::709e676404f785c2be890fb2d3c688b7
https://doi.org/10.7554/elife.48705.sa2
https://doi.org/10.7554/elife.48705.sa2
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)
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
Autor:
Hongmei Chen, Zhao-Lin Cai, Eugene S. Chao, John W. Swann, Wu Chen, Joo Hyun Kim, Mingshan Xue, Jianrong Tang, Huda Y. Zoghbi, Jessica E Messier, Hsiao-Tuan Chao, Shuang Hao
Mutations in genes encoding synaptic proteins cause many neurodevelopmental disorders, but the underlying pathogeneses are poorly understood. Syntaxin-binding protein 1 (STXBP1) is an essential component of the neurotransmitter release machinery. Its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e82fa5ac64431cadac9ac37f759f0d
https://doi.org/10.1101/621516
https://doi.org/10.1101/621516