An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio

Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). Here the authors identify a large cluster of de novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with...

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Autores principales:	Anastasiia Sadybekov, Chen Tian, Cosimo Arnesano, Vsevolod Katritch, Bruce E. Herring
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/702daf542acd4526850de52f756d5ee1
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spelling	oai:doaj.org-article:702daf542acd4526850de52f756d5ee12021-12-02T14:41:10ZAn autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio10.1038/s41467-017-00472-02041-1723https://doaj.org/article/702daf542acd4526850de52f756d5ee12017-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-00472-0https://doaj.org/toc/2041-1723Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). Here the authors identify a large cluster of de novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with ASD, and confirm that some of these mutations lead to glutamatergic dysregulation in vitro.Anastasiia SadybekovChen TianCosimo ArnesanoVsevolod KatritchBruce E. HerringNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Anastasiia Sadybekov Chen Tian Cosimo Arnesano Vsevolod Katritch Bruce E. Herring An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
description	Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). Here the authors identify a large cluster of de novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with ASD, and confirm that some of these mutations lead to glutamatergic dysregulation in vitro.
format	article
author	Anastasiia Sadybekov Chen Tian Cosimo Arnesano Vsevolod Katritch Bruce E. Herring
author_facet	Anastasiia Sadybekov Chen Tian Cosimo Arnesano Vsevolod Katritch Bruce E. Herring
author_sort	Anastasiia Sadybekov
title	An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
title_short	An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
title_full	An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
title_fullStr	An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
title_full_unstemmed	An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
title_sort	autism spectrum disorder-related de novo mutation hotspot discovered in the gef1 domain of trio
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/702daf542acd4526850de52f756d5ee1
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An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio

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