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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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Foilsithe in:Nat Commun
Main Authors: Sadybekov, Anastasiia, Tian, Chen, Arnesano, Cosimo, Katritch, Vsevolod, Herring, Bruce E.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2017
Ábhair:
Rochtain Ar Líne: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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