A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 <i>Rhodopsin</i> -Associated RP Models
Many RHO mutations do not substantially alter RHO localization or glycosylation. The exceptions we identified are P23H and S176F, which dramatically mislocalize, and constitute a distinct category of proteolytically cleaved misfolding variants. L31Q and T58R induce RD by mechanisms similar to glycosylation-deficient variants, despite the lack of glycosylation defects. Intermediate phenotypes indicate at least one previously undescribed mechanism for class B1 RP pathogenesis.
Authors
- Orson L. Moritz (ORCID: https://orcid.org/0000-0002-6183-6499)
- Aaron D. Loewen (ORCID: https://orcid.org/0000-0002-1392-6430)
- Colette N. Chiu
- Ross T Scharbach
- Beatrice M. Tam
Institutions
- University of British Columbia (CA)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1167/iovs.66.15.9
- Primary Topic
- Photoreceptor and optogenetics research
- Type
- article
- Field-Weighted Citation Impact
- 0.00