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.

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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
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article

A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin -Associated RP Models

Orson L. Moritz, Aaron D. Loewen, Colette N. Chiu, Ross T Scharbach et al.
Investigative Ophthalmology & Visual Science
Photoreceptor and optogenetics research
article

A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin -Associated RP Models

Orson L. Moritz, Aaron D. Loewen, Colette N. Chiu, Ross T Scharbach, Beatrice M. Tam
article en

Abstract

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.

Investigative Ophthalmology & Visual ScienceVol. 66(15)
University of British Columbia (CA)
Openalex Percentile: Top 59%
Photoreceptor and optogenetics research
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