Exon 13-skipped USH2A protein retains functional integrity in mice, suggesting an exon skipping therapeutic approach to treat USH2A-associated disease.
Nachiket D. Pendse, Verónica Lamas, Morgan L. Maeder, Basil S. Pawlyk, Sebastian W. Gloskowski, Eric A. Pierce, Zheng‐Yi Chen, Qin Liu
This study shows that skipping exon 13 of the USH2A gene produces functional Usherin protein in mice, supporting exon-skipping as a therapeutic approach for USH2A-related diseases.
bioRxiv · Feb 4, 2020 · PreprintMolecular Biology