Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A hyperactivity increases the risk of neurodevelopmental...

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Autores principales:	Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/558b49ad0b204a65b82f15573d8dfef0
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spelling	oai:doaj.org-article:558b49ad0b204a65b82f15573d8dfef02021-11-28T12:31:25ZIdentification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis10.1038/s41467-021-27156-02041-1723https://doaj.org/article/558b49ad0b204a65b82f15573d8dfef02021-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-27156-0https://doaj.org/toc/2041-1723UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A hyperactivity increases the risk of neurodevelopmental disease.Kellan P. WestonXiaoyi GaoJinghan ZhaoKwang-Soo KimSusan E. MaloneyJill GotoffSumit ParikhYen-Chen LeuKuen-Phon WuMarwan ShinawiJoshua P. SteimelJoseph S. HarrisonJason J. YiNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Kellan P. Weston Xiaoyi Gao Jinghan Zhao Kwang-Soo Kim Susan E. Maloney Jill Gotoff Sumit Parikh Yen-Chen Leu Kuen-Phon Wu Marwan Shinawi Joshua P. Steimel Joseph S. Harrison Jason J. Yi Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
description	UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A hyperactivity increases the risk of neurodevelopmental disease.
format	article
author	Kellan P. Weston Xiaoyi Gao Jinghan Zhao Kwang-Soo Kim Susan E. Maloney Jill Gotoff Sumit Parikh Yen-Chen Leu Kuen-Phon Wu Marwan Shinawi Joshua P. Steimel Joseph S. Harrison Jason J. Yi
author_facet	Kellan P. Weston Xiaoyi Gao Jinghan Zhao Kwang-Soo Kim Susan E. Maloney Jill Gotoff Sumit Parikh Yen-Chen Leu Kuen-Phon Wu Marwan Shinawi Joshua P. Steimel Joseph S. Harrison Jason J. Yi
author_sort	Kellan P. Weston
title	Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
title_short	Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
title_full	Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
title_fullStr	Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
title_full_unstemmed	Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
title_sort	identification of disease-linked hyperactivating mutations in ube3a through large-scale functional variant analysis
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/558b49ad0b204a65b82f15573d8dfef0
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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

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