ArticleProceedings of the National Academy of Sciences of the United States of America1995
Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.
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Who cites it
96 citing papers in PubMed, 236 citations in OpenAlex.
- The Drosophila CEBPG homolog Irbp18 partners with crc (ATF4) to mediate the integrated stress response in degenerative disease models.Cell reports · 2026Article
- The regulation of Xrp1 expression by uORFs and main ORF sequences and its function in Drosophila disease models.PLoS genetics · 2026Article
- The ZnDevelopmental cell · 2024Article
- Xport-A functions as a chaperone by stabilizing the first five transmembrane domains of rhodopsin-1.iScience · 2023Article
- Wg/Wnt1 and Erasp link ER stress to proapoptotic signaling in an autosomal dominant retinitis pigmentosa model.Experimental & molecular medicine · 2023Article
- PERK prevents rhodopsin degradation during retinitis pigmentosa by inhibiting IRE1-induced autophagy.The Journal of cell biology · 2023Article
- AnInsects · 2023Article
- Vitamin A Deficiency Alters the Phototransduction Machinery and Distinct Non-Vision-Specific Pathways in theBiomolecules · 2022Article
- iRhom pseudoproteases regulate ER stress-induced cell death through IPNature communications · 2022Article
- A protein-trap allele reveals roles for Drosophila ATF4 in photoreceptor degeneration, oogenesis and wing development.Disease models & mechanisms · 2022Article
- Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.Frontiers in endocrinology · 2022Review
- Drosophila Unfolded Protein Response (UPR) Assays In Vitro and In Vivo.Methods in molecular biology (Clifton, N.J.) · 2022Article
- The transcription factor Xrp1 is required for PERK-mediated antioxidant gene induction ineLife · 2021Article
- Drosophila fabp is required for light-dependent Rhodopsin-1 clearance and photoreceptor survival.PLoS genetics · 2021Article
- Mutations in the splicing regulator Prp31 lead to retinal degeneration inBiology open · 2021Article
- Knockdown of Dehydrodolichyl Diphosphate Synthase in theFrontiers in molecular neuroscience · 2021Article
- Suppression of retinal degeneration by two novel ERAD ubiquitin E3 ligases SORDD1/2 in Drosophila.PLoS genetics · 2020Article
- The Function ofBiology · 2020Article
- Translational induction of ATF4 during integrated stress response requires noncanonical initiation factors eIF2D and DENR.Nature communications · 2020Article
- Review
36 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Retinitis pigmentosa (RP) is a group of hereditary human diseases that cause retinal degeneration and lead to eventual blindness. More than 25% of all RP cases in humans appear to be caused by dominant mutations in the gene encoding the visual pigment rhodopsin. The mechanism by which the mutant rhodopsin proteins cause dominant retinal degeneration is still unclear. Interestingly, the great majority of these mutants appear to produce misfolded rhodopsin. We now report the isolation and characterization of 13 rhodopsin mutations that act dominantly to cause retinal degeneration in Drosophila; four of these correspond to identical substitutions in human autosomal dominant RP patients. We demonstrate that retinal degeneration results from interference in the maturation of wild-type rhodopsin by the mutant proteins.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.