ArticlePloS one2013
Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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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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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.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Circadian clock disruption promotes retinal photoreceptor degeneration.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.Vision research · 2023Article
- A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome.Frontiers in cellular neuroscience · 2020Article
- A Novel Mouse Model ofFrontiers in neuroscience · 2019Article
- Gene therapy and genome surgery in the retina.The Journal of clinical investigation · 2018Review
- Emerging Issues in AAV-MediatedMolecular therapy. Methods & clinical development · 2018Review
- Triple Vectors Expand AAV Transfer Capacity in the Retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.Scientific reports · 2018Article
- Gene and cell-based therapies for inherited retinal disorders: An update.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Review
- The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences.Genome research · 2016Article
- Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Specialized Cilia in Mammalian Sensory Systems.Cells · 2015Review
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.Cold Spring Harbor perspectives in medicine · 2015Review
- Understanding photoreceptor outer segment phagocytosis: use and utility of RPE cells in culture.Experimental eye research · 2014Review
- myosin 7aa(-/-) mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses.Experimental eye research · 2014Article
- Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors.Gene therapy · 2014Article
- Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A.Human gene therapy methods · 2014Article
- EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat.PloS one · 2014Article
- Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa. A promising therapeutic strategy for retinitis pigmentosa is gene therapy, however its pre-clinical development is limited by the mild retinal phenotype of the shaker1 (sh1(-/-)) murine model of USH1B which lacks both retinal functional abnormalities and degeneration. Here we report a significant, early-onset delay of sh1(-/-) photoreceptor ability to recover from light desensitization as well as a progressive reduction of both b-wave electroretinogram amplitude and light sensitivity, in the absence of significant loss of photoreceptors up to 12 months of age. We additionally show that subretinal delivery to the sh1(-/-) retina of AAV vectors encoding the large MYO7A protein results in significant improvement of sh1(-/-) photoreceptor and retinal pigment epithelium ultrastructural anomalies which is associated with improvement of recovery from light desensitization. These findings provide new tools to evaluate the efficacy of experimental therapies for USH1B. In addition, although AAV vectors expressing large genes might have limited clinical applications due to their genome heterogeneity, our data show that AAV-mediated MYO7A gene transfer to the sh1(-/-) retina is effective.
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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.