ArticleInvestigative ophthalmology & visual science2004
Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression.
Article in Investigative ophthalmology & visual science, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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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.
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Who cites it
50 citing papers in PubMed, 66 citations in OpenAlex.
- A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.Human molecular genetics · 2024Article
- Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report.Translational vision science & technology · 2024Article
- Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.Nature communications · 2024Article
- Article
- Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.Cell death & disease · 2023Article
- ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.bioRxiv : the preprint server for biology · 2023Article
- Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Cellular and molecular life sciences : CMLS · 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
- Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.Investigative ophthalmology & visual science · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.Human molecular genetics · 2020Article
- Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Human mutation · 2020Article
- Review
- Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Novel molecular mechanisms for Prph2-associated pattern dystrophy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Late-onset pattern macular dystrophy mimickingCold Spring Harbor molecular case studies · 2019Article
- Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.Human molecular genetics · 2019Article
- Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.Human molecular genetics · 2018Article
- Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposeMutations in the photoreceptor-specific protein peripherin/rds are associated with multiple retinal diseases. To date, attempts to achieve complete structural and functional rescue in animal models of peripherin/rds-induced retinal degeneration have not been successful. Gene therapy-directed approaches have been hindered by the haploinsufficiency phenotype, which dictates well-regulated expression of peripherin/rds protein levels.
methodsUsing a transgenic mouse line expressing wild-type peripherin/rds (NMP), the authors evaluated the critical in vivo level of peripherin/rds needed to maintain photoreceptor structure and ERG function and assessed the consequences of peripherin/rds overexpression in both rods and cones by Western blot and immunoprecipitation analyses, immunohistochemistry, electron microscopy, and electroretinography. The NMP transgene included a C-terminal modification (P341Q) to facilitate detection of the transgenic protein in the presence of wild-type peripherin/rds, using the monoclonal antibody 3B6.
resultsPeripherin/rds protein levels in NMP homozygotes were approximately 60% of wild-type levels. Western blot and immunoprecipitation analyses confirmed normal biochemical properties of the NMP protein when compared with wild-type peripherin/rds. Immunohistochemistry demonstrated appropriate localization of transgenic peripherin/rds protein to the disc rim region of photoreceptor outer segments. Total peripherin/rds levels in the retina were modulated by crossing NMP transgenic mice into different rds genetic backgrounds. A positive correlation was observed between peripherin/rds expression levels and the structural and functional integrity of photoreceptor outer segments. Overexpression of peripherin/rds caused no detectable adverse effects on rod or cone structure and function.
conclusionsThese findings may have significant implications regarding therapeutic intervention in peripherin/rds-associated retinal diseases.
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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.