Energetic failure and oxidative stress underlie the Prpf31 splicing factor-related mouse phenotype
Abdallah Hamieh, Elora M. Vanoni, Quentin Rieu, Julie Enderlin, Nawel Hadjout, Déborah Lew, Anaïs Potey, Géraldine Millet-Puel, Thierry Léveillard, Emeline F. Nandrot
This study identifies metabolic impairments and oxidative stress in Prpf31 mutant mouse RPE cells as key factors in retinitis pigmentosa pathogenesis.
bioRxiv · Feb 28, 2025 · PreprintPathology