Marnie P Williams

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.

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

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