The Journal of biological chemistry
A GluN2B disease-associated variant promotes the degradation of NMDA receptors via autophagy.
Taylor M Benske, Marnie P Williams, Pei-Pei Zhang, Adrian J Palumbo, Ting-Wei Mu
Published: 202610.1016/j.jbc.2026.111147
Abstract
N-methyl-D-aspartate receptors (NMDARs) are essential for excitatory neurotransmission, and missense mutations can severely disrupt their function. Pathogenic variants often lead to proteostasis defects, including improper folding, impaired assembly,…
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