epithelium-specific 65 kDa protein (also known as RPE65) is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. RPE65 is expressed in the retinal pigment...

variants, including the Retinal pigment epithelium-specific 65 kDa (RPE65) gene. The RPE65 protein is essential in the process of vision, as it contributes...

Leber congenital amaurosis. Leber's congenital amaurosis, or biallelic RPE65-mediated inherited retinal disease, is an inherited disorder causing progressive...

TULP1 in maintaining the cilia on photoreceptor cells; LRAT, RDH12, and RPE65 in replenishing retinal levels for the visual cycle; IMPDH1 in guanine synthesis...

as follows: all-trans-retinyl ester + H2O → 11-cis-retinol + fatty acid; RPE65 isomerohydrolases; 11-cis-retinol + NAD+ → 11-cis-retinal + NADH + H+; 11-cis-retinol...

as follows: all-trans-retinyl ester + H2O → 11-cis-retinol + fatty acid; RPE65 isomerohydrolases; 11-cis-retinol + NAD+ → 11-cis-retinal + NADH + H+; 11-cis-retinol...

patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has...

then converted to 11-cis-retinol by the isomerohydrolase RPE65. The isomerase activity of RPE65 has been shown; it is uncertain whether it also acts as...

used a common cold virus to deliver a normal version of the gene called RPE65 directly into the eyes of affected patients. All three patients, aged 19...

S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual...

and confirmed biallelic RPE65 mutation-associated retinal dystrophy, a genetic blinding condition caused by mutations in the RPE65 gene. The company is currently...

in Phase III clinical trials of a visual cycle modulator that modulates RPE65 activity to treat Stargardt's. Kubota Vision published the results of a...

and cones. RPE65 knockout mice (Rpe65(-/-)) showed much weaker phase shifts when compared to rodless, coneless mice, which suggested that RPE65 might have...

catalyzed by REH. The esters are also intermediates in the visual cycle: RPE65 isomerizes the retinyl part to 11-cis-retinal. Vitamin A palmitate is a...

S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual...

the RPE65 protein. Retinal pigment epithelium-specific 65 kDa protein is an enzyme in the vertebral visual pigment. The next year he mapped the RPE65 gene...

congenital amaurosis is an inherited blinding disease caused by mutations in the RPE65 gene. The results of a small clinical trial in children were published in...

cycle" that underlies vertebrate vision. Retinol is converted by the protein RPE65 within the pigment epithelium of the retina into 11-cis-retinal. This molecule...

retinol, commonly known as vitamin A. This family includes an enzyme known as RPE65 which is abundantly expressed in the retinal pigment epithelium where it...

specifically related to the retinal compound. Retinol is converted by the enzyme RPE65 within the retinal pigment epithelium into 11-cis-retinal. Within the eye...

strain with a single base change in codon 450 of the RPE65 gene (the Leu450Met variation) in which RPE65 regenerates rhodopsin at a far slower rate than wild-type...

synthesized in 2002 and was used in the isolation and characterization of RPE65. Nesnas, N.; Rando, R. R.; Nakanishi, K. (2002). "Synthesis of biotinylated...

in retinol metabolism. In vertebrates, RPE65 is the active retinol isomerase in the visual cycle. A lack of RPE65 function results in congenital blindness...

et al. (October 2008). "Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene...

first AAV-based in vivo gene therapy—voretigene neparvovec—which treated RPE65-associated Leber congenital amaurosis. As of 2020, 230 clinical trials using...

ARL13B, CC2D2A, BRCC3 Brain Leber congenital amaurosis 204000 GUCY2D, RPE65 McKusick–Kaufman syndrome 236700 MKKS Meckel–Gruber syndrome 249000 MKS1...

three studies, an AAV vector was used to deliver a functional copy of the RPE65 gene, which restored vision in children suffering from LCA. These results...

Roman AJ, et al. (August 2006). "Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis". Human...

obtained Breakthrough Therapy designations for three product candidates, SPK-RPE65 (Luxturna®), SPK-9001 for hemophilia B, and for SPK-8011 for hemophilia...

Luxturna, an AAV vector-based gene therapy product for the treatment of RPE65 mutation-associated retinal dystrophy in adults. Luxturna is the first gene...