Examining the Role of Cone-expressed RPE65 in Mouse Cone Function [PDF]
Scientific Reports, 2018 Efficient chromophore supply is paramount for the continuous function of vertebrate cone photoreceptors. It is well established that isomerization of all-trans- to 11-cis- retinoid in the retinal pigmented epithelium by RPE65 is a key reaction in this ...
Alexander V Kolesnikov +2 more
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Photopharmacology: A new paradigm for vision restoration. [PDF]
Clin Transl MedClinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Casson RJ.
europepmc +2 more sources
Sustained improvement in dark-adapted sensitivity but not BCVA after voretigene neparvovec treatment in a mainland Chinese child with biallelic RPE65-associated LCA2: a case report [PDF]
Frontiers in PharmacologyInherited retinal dystrophies (IRDs) represent heterogeneous genetic eye disorders frequently linked to RPE65 mutations. Voretigene neparvovec (VN, Luxturna), an AAV2-mediated gene therapy, remains the sole approved drug for biallelic RPE65-associated ...
Yue Ren +12 more
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Regulation of RPE65 expression in human retinal pigment epithelium cells [PDF]
Scientific ReportsThe visual cycle is an important pathway in the retinal pigment epithelium (RPE) which regenerates 11-cis retinal chromophore for the retinal photoreceptors. The central enzyme in the visual cycle is RPE65 retinol isomerase.
Olga A. Postnikova +6 more
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Impact of Donor and Host Age on Systemic Cell Therapy to Treat Age-Related Macular Degeneration [PDF]
CellsPurpose: We previously reported that the systemic administration of preprogrammed mouse hematopoietic bone marrow-derived progenitor cells (HSPCs) improved visual function and restored a functional retinal pigment epithelial (RPE) layer.
Carolina Francelin +6 more
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Derivation and characterization of retinal pigment epithelium from urine-derived iPSCs. [PDF]
FEBS Open BioAge‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Beiner D +7 more
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AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease [PDF]
Nature CommunicationsNonsense mutations change a sense codon into a premature termination codon (PTC) in mRNA and account for approximately 18.5% of human inherited retinal diseases (IRDs)-related mutation.
Chengda Ren +20 more
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Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants [PDF]
PeerJ, 2023 Purpose This study aimed to develop a prediction model to classify RPE65-mediated inherited retinal disease (IRDs) based on protein secondary structure and to analyze phenotype-protein structure correlations of RPE65 missense variants in a Chinese cohort.
Jiawen Wu +6 more
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PLoS ONE, 2022 The visual cycle refers to a series of biochemical reactions of retinoids in ocular tissues and supports the vision in vertebrates. The visual cycle regenerates visual pigments chromophore, 11-cis-retinal, and eliminates its toxic byproducts from the ...
Yuhong Wang +8 more
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An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65
Life Science Alliance, 2023 Amino acid residues 107–125 of RPE65, in concert with a palmitoyl group at C112, form a membrane-sensing amphipathic helix that targets RPE65 to smooth endoplasmic reticulum to acquire its substrate.
Sheetal Uppal +7 more
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