Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy
Maria Elia, Valda Pauzuolyte, Μαρία Γεωργίου, Mark Basche, Carina Hansohn, Elton J. R. Vasconcelos, Robert Atkinson, Sushma Grellscheid, Colin A. Johnson, Gerrit Hilgen, Henning Urlaub, Alexander J. Smith, Sina Mozaffari‐Jovin, Robin R. Ali, Majlinda Lako
This study demonstrates that AAV-mediated PRPF31 gene therapy restores splicing homeostasis and rescues RP11 phenotypes in patient-derived RPE and retinal organoids.
bioRxiv · Apr 16, 2026 · PreprintMolecular Biology