Functional rescue of a fatal ERAD mutation via alternative splicing
Huilun Helen Wang, Zhihong Wang, Liangguang Leo Lin, Sunil Kumar Verma, Weronika Gniadzik, Hui Wang, Zexin Jason Li, Lulu Jiang, Muge N. Kuyumcu‐Martinez, Shengyi Sun, Ling Qi
This study reports the discovery of using antisense oligonucleotides (ASOs) to rescue the biallelic SEL1L C141Y variant, offering a potential therapeutic strategy.
bioRxiv · Jun 13, 2025 · PreprintCell Biology