Correction of multiple splicing mutations associated with CFTR exon 18 using a single exon-specific U1 snRNA
Annabelle G Elsner Pacheco, Jenell M. Betts, Shuyu Hao, Hannah Callejas, Karl Andreas Mader, Abdul McKinney, Ronald A. Conlon, Mitchell L. Drumm, Hua Lou
This study develops a platform to screen and rescue multiple splicing mutations using a single exon-specific U1 snRNA, showing effectiveness in rescuing 3 and 5 splice site mutations in CFTR exon 18.
bioRxiv · Feb 2, 2026 · PreprintGenetics