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Article

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

Nature communications - 19 Sept 2017

Sadybekov Anastasiia, Tian Chen, Arnesano Cosimo, Katritch Vsevolod, Herring Bruce E

Abstract excerpt

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 actin polymerization at glutamatergic synapses. Here, in humans, we discover a large cluster of ASD-related de novo...

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Identifiers

PMID: 28928363
DOI: 10.1038/s41467-017-00472-0
PMCID: PMC5605661

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.PMID 28928363Read ↗

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