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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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Detalles Bibliográficos
Autores principales: Sadybekov, Anastasiia, Tian, Chen, Arnesano, Cosimo, Katritch, Vsevolod, Herring, Bruce E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605661/
https://www.ncbi.nlm.nih.gov/pubmed/28928363
http://dx.doi.org/10.1038/s41467-017-00472-0