ArticleMolecular therapy : the journal of the American Society of Gene Therapy2014
Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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Who cites it
44 citing papers in PubMed, 80 citations in OpenAlex.
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- MFRP is a molecular hub that organizes the apical membrane of RPE cells by engaging in interactions with specific proteins and lipids.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Ablating VHL in rod photoreceptors modulates RPE glycolysis and improves preclinical model of retinitis pigmentosa.The Journal of clinical investigation · 2025Article
- Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 Mutation.Advances in experimental medicine and biology · 2025Article
- Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.JCI insight · 2024Article
- CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa.Cell reports. Medicine · 2024Article
- Modeling inherited retinal diseases using human induced pluripotent stem cell derived photoreceptor cells and retinal pigment epithelial cells.Frontiers in medicine · 2024Review
- Improved gene therapy for MFRP deficiency-mediated retinal degeneration by knocking down endogenous bicistronicMolecular therapy. Nucleic acids · 2023Article
- Evaluation of vision-related quality of life in retinitis pigmentosa patients with low vision.Japanese journal of ophthalmology · 2021Article
- Differential Expression of Inflammasome-Related Genes in Induced Pluripotent Stem-Cell-Derived Retinal Pigment Epithelial Cells with or without History of Age-Related Macular Degeneration.International journal of molecular sciences · 2021Article
- Potential of Induced Pluripotent Stem Cells for Use in Gene Therapy: History, Molecular Bases, and Medical Perspectives.Biomolecules · 2021Review
- Role of In Vitro Models for Development of Ophthalmic Delivery Systems.Critical reviews in therapeutic drug carrier systems · 2021Review
- Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level.Scientific reports · 2020Article
- Study of Usutu virus neuropathogenicity in mice and human cellular models.PLoS neglected tropical diseases · 2020Article
- Repair of Retinal Degeneration following Ex Vivo Minicircle DNA Gene Therapy and Transplantation of Corrected Photoreceptor Progenitors.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Membrane-type frizzled-related protein regulates lipidome and transcription for photoreceptor function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Article
- MicroRNA Profiling During Neural Differentiation of Induced Pluripotent Stem Cells.International journal of molecular sciences · 2019Article
- Long-Term Effects of Gene Therapy in a Novel Mouse Model of HumanHuman gene therapy · 2019Article
- Comparative AAV-eGFP Transgene Expression Using Vector Serotypes 1-9, 7m8, and 8b in Human Pluripotent Stem Cells, RPEs, and Human and Rat Cortical Neurons.Stem cells international · 2019Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Defects in Membrane Frizzled-related Protein (MFRP) cause autosomal recessive retinitis pigmentosa (RP). MFRP codes for a retinal pigment epithelium (RPE)-specific membrane receptor of unknown function. In patient-specific induced pluripotent stem (iPS)-derived RPE cells, precise levels of MFRP, and its dicistronic partner CTRP5, are critical to the regulation of actin organization. Overexpression of CTRP5 in naïve human RPE cells phenocopied behavior of MFRP-deficient patient RPE (iPS-RPE) cells. AAV8 (Y733F) vector expressing human MFRP rescued the actin disorganization phenotype and restored apical microvilli in patient-specific iPS-RPE cell lines. As a result, AAV-treated MFRP mutant iPS-RPE recovered pigmentation and transepithelial resistance. The efficacy of AAV-mediated gene therapy was also evaluated in Mfrp(rd6)/Mfrp(rd6) mice--an established preclinical model of RP--and long-term improvement in visual function was observed in AAV-Mfrp-treated mice. This report is the first to indicate the successful use of human iPS-RPE cells as a recipient for gene therapy. The observed favorable response to gene therapy in both patient-specific cell lines, and the Mfrp(rd6)/Mfrp(rd6) preclinical model suggests that this form of degeneration caused by MFRP mutations is a potential target for interventional trials.
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Registered trials
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