In vitro splice-switching oligonucleotide rescues aberrant GFM2 pseudoexon inclusion and restores mitochondrial activity
Shira Gross, Rivka Birnbaum, Nava Shaul Lotan, Hagar Mor‐Shaked, Joshua Manor, Avraham Shaag, Chaggai Rosenbluh, Adi Levy-Memo, Shira Yanovsky‐Dagan, Ann Saada, Tamar Harel
This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.
medRxiv · Jun 1, 2026 · PreprintGenetic & Genomic Medicine