ArticlePloS one2012
Rhodopsin gene expression determines rod outer segment size and rod cell resistance to a dominant-negative neurodegeneration mutant.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 53 citations in OpenAlex.
- Disease mechanisms revealed in the P23H opsin knock-in mouse model of retinitis pigmentosa.PNAS nexus · 2026Article
- A DNA base-specific sequence interposed between CRX and NRL contributes to RHODOPSIN expression.Scientific reports · 2024Article
- Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.Biomolecules · 2024Review
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa.Nature communications · 2024Article
- Gene augmentation for autosomal dominant retinitis pigmentosa using rhodopsin genomic loci nanoparticles in the P23HGene therapy · 2023Article
- Photoreceptor disc incisures form as an adaptive mechanism ensuring the completion of disc enclosure.eLife · 2023Article
- Photoreceptor disc incisures form as an adaptive mechanism ensuring the completion of disc enclosure.bioRxiv : the preprint server for biology · 2023Article
- Mutations inScience advances · 2022Article
- Profiles ofFrontiers in neuroanatomy · 2022Article
- Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.International ophthalmology clinics · 2021Article
- Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.American journal of human genetics · 2021Article
- Mutations in the splicing regulator Prp31 lead to retinal degeneration inBiology open · 2021Article
- Deletion ofInternational journal of ophthalmology · 2021Article
- Peroxisomal Multifunctional Protein 2 Deficiency Perturbs Lipid Homeostasis in the Retina and Causes Visual Dysfunction in Mice.Frontiers in cell and developmental biology · 2021Article
- Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.Human molecular genetics · 2020Article
- Abnormal Cone and Rod Photoreceptor Morphogenesis in gdf6a Mutant Zebrafish.Investigative ophthalmology & visual science · 2020Article
- Chronically shortened rod outer segments accompany photoreceptor cell death in Choroideremia.PloS one · 2020Article
- Screening of Chemical Libraries Using a Yeast Model of Retinal Disease.SLAS discovery : advancing life sciences R & D · 2019Article
- Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.International journal of molecular sciences · 2019Review
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7 authors at 1 institution in 1 country.
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Abstract
Two outstanding unknowns in the biology of photoreceptors are the molecular determinants of cell size, which is remarkably uniform among mammalian species, and the mechanisms of rod cell death associated with inherited neurodegenerative blinding diseases such as retinitis pigmentosa. We have addressed both questions by performing an in vivo titration with rhodopsin gene copies in genetically engineered mice that express only normal rhodopsin or an autosomal dominant allele, encoding rhodopsin with a disease-causing P23H substitution. The results reveal that the volume of the rod outer segment is proportional to rhodopsin gene expression; that P23H-rhodopsin, the most common rhodopsin gene disease allele, causes cell death via a dominant-negative mechanism; and that long term survival of rod cells carrying P23H-rhodopsin can be achieved by increasing the levels of wild type rhodopsin. These results point to promising directions in gene therapy for autosomal dominant neurodegenerative diseases caused by dominant-negative mutations.
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