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
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
GRIN2B disease-associated mutations disrupt the function of BK channels and NMDA receptor signaling nanodomains.
Martínez-Lázaro R et al.
The Journal of General Physiology, 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
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Myers SJ et al.
Human Molecular Genetics, 2023
Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.
Wang X et al.
Neuroscience, 2023
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
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.
Shah AA et al.
Genes, 2022
Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification.
Elmasri M et al.
Brain Sciences, 2022
Protein quality control of N-methyl-D-aspartate receptors.
Benske TM et al.
Frontiers in Cellular Neuroscience, 2022
GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms.
Sabo SL et al.
Frontiers in Synaptic Neuroscience, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 2021
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
The Extracellular Domains of GluN Subunits Play an Essential Role in Processing NMDA Receptors in the ER.
Horak M et al.
Frontiers in Neuroscience, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.
Fedele L et al.
Nature Communications, 2018
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
Soto D et al.
Biological Psychiatry, 2018
GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors.
Mullier B et al.
Neuropharmacology, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
Ogden KK et al.
Plos Genetics, 2017
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Swanger SA et al.
American Journal of Human Genetics, 2016
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
NMDA receptor subunit mutations in neurodevelopmental disorders.
Burnashev N et al.
Current Opinion in Pharmacology, 2015
The genomic landscape of pediatric Ewing sarcoma.
Crompton BD et al.
Cancer Discovery, 2014
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.
Soto D et al.
Communicative & Integrative Biology, 2014
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR et al.
Annals of Neurology, 2014
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature.
Mishra N et al.
Child Neurology Open, 0