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

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 19 May 2004

Comoletti Davide, De Jaco Antonella, Jennings Lori L, Flynn Robyn E, Gaietta Guido, Tsigelny Igor, Ellisman Mark H, Taylor Palmer

Abstract excerpt

The neuroligins are a family of postsynaptic transmembrane proteins that associate with presynaptic partners, the beta-neurexins. Neurexins and neuroligins play a critical role in initiating formation and differentiation of synaptic junctions. A recent study reported that a mutation of neuroligin-3 (NL3), an X-linked gene, was found in siblings with autistic spectrum disorder in which two affected brothers had a...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Cell Adhesion Molecules, Neuronal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique

Share to Immunoblotting

Share to Mass Spectrometry

Share to Protein Processing, Post-Translational

Share to Solubility

Share to Surface Plasmon Resonance

Source

Open in PubMed Open full text

Identifiers

PMID: 15152050
DOI: 10.1523/JNEUROSCI.0468-04.2004
PMCID: PMC6729460

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.PMID 15152050Read ↗

Trafficking of cholinesterases and neuroligins mutant proteins. An association with autism.Semantic proximity Read ↗

Folding anomalies of neuroligin3 caused by a mutation in the alpha/beta-hydrolase fold domain.Semantic proximity Read ↗

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms.Semantic proximity Read ↗

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.Semantic proximity Read ↗

Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion.Semantic proximity Read ↗

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentSemantic proximity Read ↗

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanismsSemantic proximity Read ↗

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

A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing.Semantic proximity Read ↗

An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons.Semantic proximity Read ↗

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation.Semantic proximity Read ↗

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

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