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 (2,636 words) - 07:16, 22 October 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) - 09:34, 29 September 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 (1,751 words) - 15:47, 7 September 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...
33 KB (3,318 words) - 20:15, 11 September 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
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 (6,334 words) - 17:55, 23 October 2024
and cones. RPE65 knockout mice (Rpe65(-/-)) showed much weaker phase shifts when compared to rodless, coneless mice, which suggested that RPE65 might have...
15 KB (1,673 words) - 16:29, 1 September 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 (10,429 words) - 04:33, 19 October 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) - 05:14, 10 September 2024