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

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

Journal of human genetics - 1 Jun 2017

Chen Wenjuan, Shieh Christine, Swanger Sharon A, Tankovic Anel, Au Margaret, McGuire Marianne, Tagliati Michele, Graham John M, Madan-Khetarpal Suneeta, Traynelis Stephen F, Yuan Hongjie, Pierson Tyler Mark

Abstract excerpt

N-methyl-d-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R). Both individuals presented at birth with developmental delay and hypotonia associated with behavioral abnormalities and stereotypical movements. Recombinant NMDARs containing the mutant...

Read the complete abstract on PubMed

Topics

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

Share to Cell Membrane
Share to Glycine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Nerve Tissue Proteins

Share to Neurons

Share to Protein Transport

Share to Receptors, N-Methyl-D-Aspartate

Share to Recombinant Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 28228639
DOI: 10.1038/jhg.2017.19
PMCID: PMC5637523

Genes

GRIN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.PMID 28228639Read ↗

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathySemantic proximity Read ↗

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanismsSemantic proximity Read ↗

Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy.Semantic proximity Read ↗

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Semantic proximity Read ↗

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.Semantic proximity Read ↗

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.Semantic proximity Read ↗

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.Semantic proximity Read ↗

Phenotype of mice carrying an NMDA receptor GluN2B protein-truncating variant associated with intellectual disabilitySemantic proximity Read ↗

Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.Semantic proximity Read ↗

Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.Semantic proximity Read ↗

Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.Semantic proximity Read ↗

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.Semantic proximity Read ↗

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