Article

A GluN2B disease-associated variant promotes degradation of NMDA receptors via autophagy

2025-01-13

Abstract excerpt

N-methyl-D-aspartate receptors (NMDARs) are essential for excitatory neurotransmission and their pathogenic variants can lead to proteostasis defects and thus neurological diseases. However, how the proteostasis network degrades pathogenic variants is not well understood. Here, we demonstrated that the R519Q GluN2B variant is retained in the endoplasmic reticulum (ER) and fails to traffic to the surface to form fu...

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Literature Corpus work: 421856d8-5a12-52d5-a7f3-13710bda59b5
DOI: 10.1101/2025.01.12.632651

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