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Article

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

Physiological research - 31 May 2024

Korinek M, Candelas Serra M, Abdel Rahman Fes, Dobrovolski M, Kuchtiak V, Abramova V, Fili K, Tomovic E, Hrcka Krausova B, Krusek J, Cerny J, Vyklicky L, Balik A, Smejkalova T

Abstract excerpt

N-methyl-D-aspartate receptors (NMDARs) are a subtype of ionotropic glutamate receptors critical for synaptic transmission and plasticity, and for the development of neural circuits. Rare or de-novo variants in GRIN genes encoding NMDAR subunits have been associated with neurodevelopmental disorders characterized by intellectual disability, developmental delay, autism, schizophrenia, or epilepsy. In recent years,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38836461
DOI: 10.33549/physiolres.935346
PMCID: PMC11412357

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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.

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