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, Kuchtiak V, Hrcka Krausova B, Balik A, Korinek M, Fili K, Dobrovolski M, Abramova V, Chodounska H, Kudova E, et al. Cell Mol Life Sci. 2024 Jan 12; 81(1):36. Epub 2024 Jan 12.