ReviewMolecular neurobiology2003
The nature of dominant mutations of rhodopsin and implications for gene therapy.
Review in Molecular neurobiology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 89 citations in OpenAlex.
- RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.Investigative ophthalmology & visual science · 2025Article
- Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Genetic engineering and the eye.Eye (London, England) · 2025Review
- Article
- Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.Biomolecules · 2024Review
- Mutant dominant-negativeFrontiers in molecular biosciences · 2024Article
- Rho enhancers play unexpectedly minor roles in Rhodopsin transcription and rod cell integrity.Scientific reports · 2023Article
- Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.Biochimica et biophysica acta. Molecular basis of disease · 2023Article
- Gene augmentation for autosomal dominant retinitis pigmentosa using rhodopsin genomic loci nanoparticles in the P23HGene therapy · 2023Article
- Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.Frontiers in neuroscience · 2023Review
- CRISPR/Cas therapeutic strategies for autosomal dominant disorders.The Journal of clinical investigation · 2022Review
- Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.International ophthalmology clinics · 2021Article
- Endoplasmic reticulum stress: New insights into the pathogenesis and treatment of retinal degenerative diseases.Progress in retinal and eye research · 2020Review
- Pharmacological clearance of misfolded rhodopsin for the treatment of RHO-associated retinitis pigmentosa.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Using Transcriptomic Analysis to Assess Double-Strand Break Repair Activity: Towards Precise in vivo Genome Editing.International journal of molecular sciences · 2020Article
- Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoCellular and molecular life sciences : CMLS · 2019Article
- Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.Genes · 2019Review
- Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.International journal of molecular sciences · 2019Review
- Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.Human molecular genetics · 2018Article
- In Vivo Knockout of the Vegfa Gene by Lentiviral Delivery of CRISPR/Cas9 in Mouse Retinal Pigment Epithelium Cells.Molecular therapy. Nucleic acids · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the rhodopsin gene are the most common cause of retinitis pigmentosa (RP) among human patients. The nature of the rhodopsin mutations has critical implications for the design of strategies for gene therapy. Nearly all rhodopsin mutations are dominant. Although dominance does not arise because of haploinsufficiency, it is unclear whether it is caused by gain-of-function or dominant-negative mutations. Current strategies for gene therapy have been devised to deal with toxic, gain-of-function mutations. However, analysis of results of transgenic and targeted expression of various rhodopsin genes in mice suggests that dominance may arise as a result of dominant-negative mutations. This has important consequences for gene therapy. The effects of dominant-negative mutations can be alleviated, in principle, by supplementation with additional wild-type rhodopsin. If added wild-type rhodopsin could slow retinal degeneration in human patients, as it does in mice, it would represent a valuable new strategy for gene therapy of RP caused by dominant rhodopsin mutations.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.