ArticleJournal of biochemistry2015
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.
Article in Journal of biochemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene.Investigative ophthalmology & visual science · 2025Article
- Comprehensive analysis reveals the prognostic and immunological role of PSMD13 in hepatocellular carcinoma.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene.bioRxiv : the preprint server for biology · 2025Article
- Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis.Biomedicines · 2022Article
- Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.Orphanet journal of rare diseases · 2021Article
- Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.FEBS letters · 2020Article
- hnRNPM induces translation switch under hypoxia to promote colon cancer development.EBioMedicine · 2019Article
- Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.Human molecular genetics · 2018Article
- A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Human molecular genetics · 2016Article
- Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
RPE65 is a membrane-associated retinoid isomerase involved in the visual cycle responsible for sustaining vision. Many mutations in the human RPE65 gene are associated with distinct forms of retinal degenerative diseases. The pathogenic mechanisms for most of these mutations remain poorly understood. Here, we show that three Leber congenital amaurosis -associated RPE65 mutants (R91W, Y249C and R515W) undergo rapid proteasomal degradation mediated by the 26 S proteasome non-ATPase regulatory subunit 13 (PSMD13) in cultured human retinal pigment epithelium (RPE) cells. These mutant proteins formed cytosolic inclusion bodies or high molecular weight complexes via disulfide bonds. The mutations are mapped on non-active sites but severely reduced isomerase activity of RPE65. At 30°C, however, the enzymatic function and membrane-association of the mutant RPE65s are significantly rescued possibly due to proper folding. In addition, PSMD13 displayed a drastically decreased effect on degradation of the mutant proteins in the cells grown at 30°C. These results suggest that PSMD13 plays a critical role in regulating pathogenicity of the mutations and the molecular basis for the PSMD13-mediated rapid degradation and loss of function of the mutants is misfolding of RPE65.
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