Associated Papers
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids.
Kysilov B et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Regulation of the NMDA receptor by its cytoplasmic domains: (How) is the tail wagging the dog?
Ishchenko Y et al.
Neuropharmacology, 2021
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 Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density.
Liu S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016
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