Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

doi:10.3390/ijms222312656

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

Community

Back to search

Article

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

International journal of molecular sciences - 23 Nov 2021

Santos-Gómez Ana, Miguez-Cabello Federico, Juliá-Palacios Natalia, García-Navas Deyanira, Soto-Insuga Víctor, García-Peñas Juan J, Fuentes Patricia, Ibáñez-Micó Salvador, Cuesta Laura, Cancho Ramón, Andreo-Lillo Patricia, Gutiérrez-Aguilar Gema, Alonso-Luengo Olga, Málaga Ignacio, Hedrera-Fernández Antonio, García-Cazorla Àngels, Soto David, Olivella Mireia, Altafaj Xavier

Abstract excerpt

BACKGROUND: GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting GRIN genes (mostly GRIN1, GRIN2A and GRIN2B genes), which encode for the GluN subunit of the N-methyl D-aspartate (NMDA) type ionotropic glutamate receptors. A growing number of functional studies indicate that GRIN-encoded GluN1 subunit disturbances can be dichotomically...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to COS Cells

Share to HEK293 Cells

Share to Nerve Tissue Proteins

Share to Protein Conformation

Share to Receptors, N-Methyl-D-Aspartate

Share to Spain

Source

Open in PubMed Open full text

Identifiers

PMID: 34884460
DOI: 10.3390/ijms222312656
PMCID: PMC8657601

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

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.PMID 34884460Read ↗

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

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

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

GRIN database: A unified and manually curated repertoire of GRIN variants.Semantic proximity Read ↗

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.Semantic proximity Read ↗

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Semantic proximity Read ↗

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

Distinct roles of GRIN2A and GRIN2B variants in neurological conditionsSemantic proximity Read ↗

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.Semantic proximity Read ↗

Human GRIN2B variants in neurodevelopmental disorders.Semantic proximity Read ↗

Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.Semantic proximity Read ↗

Functional Analysis of Human GRIN2A Mutations Associated with Schizophrenia and Neurodevelopmental Disorders Reveals Distinct Pathological MechanismSemantic proximity Read ↗

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