Cell BiologybioRxivPreprint
Functional rescue of a fatal ERAD mutation via alternative splicing
Huilun Helen Wang, Zhihong Wang, Liangguang Leo Lin…·Ling Qi
This study reports the discovery of using antisense oligonucleotides (ASOs) to rescue the biallelic SEL1L C141Y variant, offering a potential therapeutic strategy.
DOI 10.1101/2025.06.13.659581