AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.
Anil K. Chekuri, Krishnakanth Kondabolu, Emily G. Kirchner, Swanand Koli, Matthew Chagnon, Drenushe Krasniqi, Max E. Stern, Jessica Bolduc, Giulia Romano, Franco Pagani, Luk H. Vandenberghe, Elisabetta Morini, Susan A. Slaugenhaupt
This study uses AAV2-delivered exon-specific U1 snRNA to correct ELP1 splicing and rescue optic neuropathy in a FD mouse model.
Molecular Therapy — Nucleic Acids · Dec 10, 2025Peer-reviewedMolecular Biology