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

Functional significance of rare neuroligin 1 variants found in autism.

PLoS genetics - 1 Aug 2017

Nakanishi Moe, Nomura Jun, Ji Xiao, Tamada Kota, Arai Takashi, Takahashi Eiki, Bućan Maja, Takumi Toru

Abstract excerpt

Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and...

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 Behavior, Animal
Share to Cell Adhesion Molecules, Neuronal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neurons

Share to Proteolysis

Share to Social Behavior

Share to Synapses

Source

Open in PubMed Open full text

Identifiers

PMID: 28841651
DOI: 10.1371/journal.pgen.1006940
PMCID: PMC5571902

Genes

NLGN1
NLGN3

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional significance of rare neuroligin 1 variants found in autism.PMID 28841651Read ↗

Analyses of the Autism-associated Neuroligin-3 R451C Mutation in Human Neurons Reveals a Gain-of-Function Synaptic MechanismSemantic proximity Read ↗

Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism.Semantic proximity Read ↗

Multiple rare variants in the etiology of autism spectrum disorders.Semantic proximity Read ↗

Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders.Semantic proximity Read ↗

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia.Semantic proximity Read ↗

Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking.Semantic proximity Read ↗

Disorder-associated mutations lead to functional inactivation of neuroligins.Semantic proximity Read ↗

Unraveling the Role of Neuroligin3 in Autism Spectrum Disorders: Pathophysiological Insights and Targeted Therapies.Semantic proximity Read ↗

Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.Semantic proximity Read ↗

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.Semantic proximity Read ↗

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system developmentSemantic proximity Read ↗

<i>NLGN3</i> autism variants have distinct functional impact on synapses and sleep behavior in <i>Drosophila</i>Semantic proximity Read ↗

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