Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome
Kelleen E McEntee, Bailey L McCurdy, Austin A Larson, Emily A. McCourt, Michael L. Kaufman, Amy E. Campbell, Chad G. Pearson, Scott Demarest, J. Matthew Taliaferro, Jay R. Hesselberth, Sujatha Jagannathan
This paper identifies ASOs that correct cryptic exon inclusion in SDCCAG8, restoring protein expression in BBS patients.
bioRxiv · Oct 15, 2025 · PreprintGenetics