Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Sept 2021

Tian Chen, Paskus Jeremiah D, Fingleton Erin, Roche Katherine W, Herring Bruce E

Abstract excerpt

We recently identified an autism spectrum disorder/intellectual disability (ASD/ID)-related de novo mutation hotspot in the Rac1-activating GEF1 domain of the protein Trio. Trio is a Rho guanine nucleotide exchange factor (RhoGEF) that is essential for glutamatergic synapse function. An ASD/ID-related mutation identified in Trio's GEF1 domain, Trio D1368V, produces a pathologic increase in glutamatergic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Cell Adhesion Molecules, Neuronal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dendritic Spines

Share to Excitatory Postsynaptic Potentials

Share to Hippocampus

Share to Neurogenesis

Share to Rats, Sprague-Dawley

Share to Synapses

Source

Open in PubMed Open full text

Identifiers

PMID: 34353896
DOI: 10.1523/JNEUROSCI.3148-20.2021
PMCID: PMC8445058

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autism Spectrum Disorder/Intellectual Disability-Associated Mutations in Trio Disrupt Neuroligin 1-Mediated Synaptogenesis.PMID 34353896Read ↗

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

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.Semantic proximity Read ↗

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

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

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

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

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

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

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

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.Semantic proximity Read ↗

Functional significance of rare neuroligin 1 variants found in autism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.