Results 11 to 20 of about 7,638 (169)
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
Orphanet Journal of Rare Diseases, 2021 Background The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediated inherited retinal disease ...
Feng-Juan Gao +12 more
doaj +2 more sources
RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected
Case Reports in Ophthalmological Medicine, 2022 Background. Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of ...
Mirjana Bjeloš +7 more
doaj +2 more sources
Российский офтальмологический журнал, 2021 Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development of gene therapy, a new era in the treatment of hereditary human diseases has opened.
V. V. Neroev +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Inherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because gene therapy for RPE65-associated IRDs was recently approved, it is necessary to predict the carrier ...
Eun Hye Cho +4 more
doaj +1 more source
Российский офтальмологический журнал, 2023 Purpose: to evaluate the results of gene therapy by the recombinant adeno-associated viral vector voretigene neparvovec (VN) in children with follow-up periods of 1, 3, 6, and 12 months.Material and methods. The study included 6 children (12 eyes) aged 5
V. V. Neroev +13 more
doaj +1 more source
Uncompetitive inhibition of RPE65 isomerase by (±)-RPE65-61 in the liposome-based assay.
, 2022 All-trans-retinyl ester incorporated in liposomes was used as a substrate for purified RPE65 in the isomerase assay. (A). HPLC elution profile of the reaction products without inhibitor.
Aravindan Jayaraman (6583211) +8 more
core +1 more source
(±)-RPE65-61 inhibits retinol isomerase activity in vitro.
, 2022 Bovine RPE microsomes (25 μg) were incubated with 0.2 μM of all-trans- [3H]-retinol in the presence or absence of (±)-RPE65-61 for 1h at 37°C. The generated retinoids were analyzed by HPLC coupled with flow scintillation analyzer.
Aravindan Jayaraman (6583211) +8 more
core +1 more source
Scheme of visual cycle and structure of inhibitor (±)-RPE65-61.
, 2022 (A) Schematic representation of the visual cycle and the target of (±)-RPE65-61. The visual cycle includes a series of biochemical reactions, one of the key steps is the conversion of all-trans-retinyl ester to 11-cis-retinol by RPE65 isomerase.
Aravindan Jayaraman (6583211) +8 more
core +1 more source
Effect of (±)-RPE65-61 on protection against retinal degeneration.
, 2022 LIRD caused the degeneration in the retina and RPE, which was rescued by inhibitor at the dose of 2 mg/kg in BALB/c mice. (A) Representative histological analysis for the retinas of (±)-RPE65-61 injected mice 5 days post-LIRD. Retinal cross-sections from
Aravindan Jayaraman (6583211) +8 more
core +1 more source
Systemic treatment by inhibitor (±)-RPE65-61 delays chromophore regeneration in BALB/cJ mice.
, 2022 (A) Schematic representation of the experimental design for the study of (±)-RPE65-61 retina protection against light damage in vivo. (B-D) Retinoids levels in the inhibitor treated mouse eyes during dark adaptation after the photobleach.
Aravindan Jayaraman (6583211) +8 more
core +1 more source