Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.R87W
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NLGN4X

NM_181332.3:p.R87W

Associated Papers

Does Altered Membrane Glycosylation Contribute to Neurodevelopmental Dysfunction in Autism Spectrum Disorder?

Osterne VJS et al.

Membranes, 2026

Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.

Das MR et al.

Acs Chemical Neuroscience, 2025

Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.

D'Mello SR

Neurology International, 2025

Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins.

Lehr AW et al.

Genes, 2024

Multiple N-linked glycosylation sites critically modulate the synaptic abundance of neuroligin isoforms.

Benner O et al.

The Journal of Biological Chemistry, 2023

Using structural analysis to clarify the impact of single nucleotide variants in neurexin/neuroligin revealed in clinical genomic sequencing.

Xue K et al.

Journal of Biomolecular Structure & Dynamics, 2022

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

Cast TP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

The neuroligins and the synaptic pathway in Autism Spectrum Disorder.

Trobiani L et al.

Neuroscience and Biobehavioral Reviews, 2020

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

Yumoto T et al.

Molecular Autism, 2020

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y.

Nguyen TA et al.

Neuron, 2020

The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.

Lin L et al.

Plos Genetics, 2020

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.

Nguyen TA et al.

Frontiers in Synaptic Neuroscience, 2020

A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.

Lin AY et al.

Scientific Reports, 2019

Repint of "Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity".

Tordjman S et al.

Neuroscience and Biobehavioral Reviews, 2018

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation.

Xu X et al.

Brain and Behavior, 2017

Functional significance of rare neuroligin 1 variants found in autism.

Nakanishi M et al.

Plos Genetics, 2017

Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort.

Landini M et al.

International Journal of Molecular Sciences, 2016

Slitrk Missense Mutations Associated with Neuropsychiatric Disorders Distinctively Impair Slitrk Trafficking and Synapse Formation.

Kang H et al.

Frontiers in Molecular Neuroscience, 2016

Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders.

Gao R et al.

Current Molecular Medicine, 2015

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K et al.

Psychiatric Genetics, 2013

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.

Liu Y et al.

Plos One, 2013

Homodimerization and isoform-specific heterodimerization of neuroligins.

Poulopoulos A et al.

The Biochemical Journal, 2012

22671294 (PubMed )
Supplement: supplement_1.pdf

[Abnormalities of synaptogenesis in autism. Pathogenic and therapeutic implications].

García-Peñas JJ et al.

Revista De Neurologia, 2012

Processing of cholinesterase-like α/β-hydrolase fold proteins: alterations associated with congenital disorders.

De Jaco A et al.

Protein and Peptide Letters, 2012

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K et al.

Autism Research and Treatment, 2012

Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.

Sun C et al.

Human Molecular Genetics, 2011

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

Castermans D et al.

Human Molecular Genetics, 2010

Cell adhesion molecules and their involvement in autism spectrum disorder.

Ye H et al.

Neuro-signals, 2010

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.

Zhang C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

Implications of Cell Adhesion Molecules in Autism Spectrum Disorder Pathogenesis.

Sindi IA

Journal of Microscopy and Ultrastructure, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."