Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion
Shiyu Luo, Bilal K. AlWattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne B. Fulton, Jing Chen, Pankaj B. Agrawal
This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.
bioRxiv · Oct 18, 2023 · PreprintGenetics