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...
24 KB (2,829 words) - 19:19, 23 May 2024
variants, including the Retinal pigment epithelium-specific 65 kDa (RPE65) gene. The RPE65 protein is essential in the process of vision, as it contributes...
24 KB (2,632 words) - 18:56, 8 June 2024
Leber congenital amaurosis. Leber's congenital amaurosis, or biallelic RPE65-mediated inherited retinal disease, is an inherited disorder causing progressive...
14 KB (949 words) - 05:34, 18 July 2024
TULP1 in maintaining the cilia on photoreceptor cells; LRAT, RDH12, and RPE65 in replenishing retinal levels for the visual cycle; IMPDH1 in guanine synthesis...
17 KB (1,743 words) - 01:35, 31 July 2024
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...
11 KB (1,373 words) - 00:19, 8 November 2023
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...
33 KB (3,318 words) - 18:27, 22 August 2024
patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has...
63 KB (6,440 words) - 22:03, 21 August 2024
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...
20 KB (2,366 words) - 10:36, 15 May 2024
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...
90 KB (10,389 words) - 19:58, 28 August 2024
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...
28 KB (3,087 words) - 00:22, 15 August 2024
and confirmed biallelic RPE65 mutation-associated retinal dystrophy, a genetic blinding condition caused by mutations in the RPE65 gene. The company is currently...
10 KB (904 words) - 17:58, 10 January 2024
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...
24 KB (2,922 words) - 10:54, 28 August 2024
and cones. RPE65 knockout mice (Rpe65(-/-)) showed much weaker phase shifts when compared to rodless, coneless mice, which suggested that RPE65 might have...
14 KB (1,662 words) - 02:46, 13 August 2023
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...
9 KB (781 words) - 19:37, 15 August 2024
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...
84 KB (9,314 words) - 23:04, 13 August 2024
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...
3 KB (340 words) - 01:04, 9 May 2024
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...
174 KB (17,957 words) - 10:42, 6 August 2024
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...
47 KB (5,135 words) - 20:22, 24 August 2024
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...
6 KB (642 words) - 20:31, 23 May 2024
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...
108 KB (12,577 words) - 03:14, 24 August 2024
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...
22 KB (2,628 words) - 14:16, 20 May 2024
synthesized in 2002 and was used in the isolation and characterization of RPE65. Nesnas, N.; Rando, R. R.; Nakanishi, K. (2002). "Synthesis of biotinylated...
2 KB (118 words) - 00:58, 24 December 2020
in retinol metabolism. In vertebrates, RPE65 is the active retinol isomerase in the visual cycle. A lack of RPE65 function results in congenital blindness...
2 KB (217 words) - 15:41, 26 August 2023
et al. (October 2008). "Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene...
72 KB (8,401 words) - 06:44, 28 August 2024
first AAV-based in vivo gene therapy—voretigene neparvovec—which treated RPE65-associated Leber congenital amaurosis. As of 2020, 230 clinical trials using...
48 KB (5,530 words) - 21:18, 27 August 2024
ARL13B, CC2D2A, BRCC3 Brain Leber congenital amaurosis 204000 GUCY2D, RPE65 McKusick–Kaufman syndrome 236700 MKKS Meckel–Gruber syndrome 249000 MKS1...
35 KB (2,499 words) - 18:40, 12 July 2024
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...
37 KB (4,699 words) - 05:18, 18 December 2023
Roman AJ, et al. (August 2006). "Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis". Human...
19 KB (2,336 words) - 20:52, 18 June 2024
obtained Breakthrough Therapy designations for three product candidates, SPK-RPE65 (Luxturna®), SPK-9001 for hemophilia B, and for SPK-8011 for hemophilia...
15 KB (1,439 words) - 17:58, 10 January 2024
Luxturna, an AAV vector-based gene therapy product for the treatment of RPE65 mutation-associated retinal dystrophy in adults. Luxturna is the first gene...
30 KB (3,501 words) - 10:41, 23 July 2024