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Article

Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.

Human molecular genetics - 1 Dec 2017

Katrancha Sara M, Wu Yi, Zhu Minsheng, Eipper Betty A, Koleske Anthony J, Mains Richard E

Abstract excerpt

Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental disorders, debilitating millions of people. Therapeutic progress is limited by poor understanding of underlying molecular pathways. Using a targeted search, we identified an enrichment of de novo mutations in the gene encoding the 330-kDa triple functional domain (TRIO) protein associated with neurodevelopmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28973398
DOI: 10.1093/hmg/ddx355
PMCID: PMC5886096

Genes

TRIO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.PMID 28973398Read ↗

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

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Genetic variants linked to neurodevelopmental disorders within the β3-β4 loop of the TRIO PH2 domain release autoinhibition of GEF2 activitySemantic proximity Read ↗

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.Semantic proximity Read ↗

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephalySemantic proximity Read ↗

Autism Spectrum Disorder/Intellectual Disability-Associated Mutations in Trio Disrupt Neuroligin 1-Mediated Synaptogenesis.Semantic proximity Read ↗

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.Semantic proximity Read ↗

Modeling human mutations to understand TRIO GEF function during development.Semantic proximity Read ↗

Common Genetic Variants in TRIO Are Associated With Autism in Chinese Han Population.Semantic proximity Read ↗

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Semantic proximity Read ↗

Heterozygosity for neurodevelopmental disorder-associated <i>TRIO</i> variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in miceSemantic proximity Read ↗

Heterogeneous Genotype-Phenotype Associations in TRIO-Related Neurodevelopmental Disorder Revealed by Meta-AnalysisSemantic proximity Read ↗

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