Ting‐Wei Mu

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

The paper shows that the R519Q GluN2B variant is degraded via autophagy-lysosomal pathway, providing a mechanism for NMDAR variant clearance and potential therapeutic targets.

Phenylhydrazone-based Endoplasmic Reticulum Proteostasis Regulator Compounds with Enhanced Biological Activity

This study identifies AA263 analogs that enhance ER proteostasis by targeting ER protein disulfide isomerases, correcting protein misfolding in disease models.

Missense variants in GABAA receptor beta2 subunit disrupt receptor biogenesis and cause loss of function

This study investigates four missense variants in the GABRB2 gene, showing they disrupt GABAAR beta2 subunit biogenesis and cause loss of function through proteostasis defects.

GABRA1 frameshift variants impair GABAA receptor proteostasis

This study examines four GABRA1 frameshift variants, showing they reduce GABAAR subunit trafficking and impair proteostasis, with varying severity based on transmembrane domain deletions.