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
Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.
Netolicky J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.
Kellner S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y et al.
Cellular and Molecular Life Sciences : Cmls, 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
N-methyl-D-aspartate receptor hypofunction as a potential contributor to the progression and manifestation of many neurological disorders.
Dong B et al.
Frontiers in Molecular Neuroscience, 2023
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N et al.
Archives of Iranian Medicine, 2022
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
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
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
The pathogenic S688Y mutation in the ligand-binding domain of the GluN1 subunit regulates the properties of NMDA receptors.
Skrenkova K et al.
Scientific Reports, 2020
Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.
Myers SJ et al.
F1000research, 2019
The GluN2B-Glu413Gly NMDA receptor variant arising from a de novo GRIN2B mutation promotes ligand-unbinding and domain opening.
Wells G et al.
Proteins, 2018
Disruption of GRIN2B Impairs Differentiation in Human Neurons.
Bell S et al.
Stem Cell Reports, 2018
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
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl WA et al.
Molecular Genetics and Metabolism, 2016
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR et al.
Molecular Genetics and Metabolism, 2014