Associated Papers
A GluN2B disease-associated variant promotes the degradation of NMDA receptors via autophagy.
Benske TM et al.
The Journal of Biological Chemistry, 2026
41525846 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_S1
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
41146259 (PubMed )
Supplement: 13023_2025_4055_MOESM1_ESM.xlsx › Supplementary_table1
Inhibition of GluN2B-containing N-methyl-d-aspartate receptors by radiprodil.
Banke TG et al.
Brain : a Journal of Neurology, 2025
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
Pregnane-based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss-of-function disease-associated GRIN mutations.
Kysilov B et al.
British Journal of Pharmacology, 2022
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › ClinVar_-_filtered
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed
Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit.
Vyklicky V et al.
Frontiers in Molecular Neuroscience, 2018
The LILI Motif of M3-S2 Linkers Is a Component of the NMDA Receptor Channel Gate.
Ladislav M et al.
Frontiers in Molecular Neuroscience, 2018
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
Evidence that the N-methyl-D-aspartate subunit 1 receptor gene (GRIN1) confers susceptibility to bipolar disorder.
Mundo E et al.
Molecular Psychiatry, 2003
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