Genetic & Genomic MedicinemedRxivPreprint
In vitro splice-switching oligonucleotide rescues aberrant GFM2 pseudoexon inclusion and restores mitochondrial activity
Shira Gross, Rivka Birnbaum, Nava Shaul Lotan…·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.
DOI 10.64898/2026.05.28.26354078