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

The Rho guanine nucleotide exchange factor (RhoGEF) Trio promotes actin polymerization by directly activating the small GTPase Rac1. Recent studies suggest that autism spectrum disorder (ASD)-related behavioral phenotypes in animal models of ASD can be produced by dysregulation of Rac1’s control of...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Sadybekov, Anastasiia, Tian, Chen, Arnesano, Cosimo, Katritch, Vsevolod, Herring, Bruce E.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5605661/
https://ncbi.nlm.nih.gov/pubmed/28928363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-00472-0
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