Cell BiologybioRxivPreprint
GABRA1 frameshift variants impair GABAA receptor proteostasis
Marnie P Williams, Yajuan Wang, Jing‐Qiong Kang…·Ting-Wei Mu
This study examines four GABRA1 frameshift variants, showing they reduce GABAAR subunit trafficking and impair proteostasis, with varying severity based on transmembrane domain deletions.
4 citations