Results 21 to 30 of about 7,638 (169)
Российский офтальмологический журнал, 2022 Inherited retinal dystrophies (IRD) include a wide range of genetically and phenotypically heterogeneous diseases that lead to progressive loss of vision.
E. I. Saidasheva +4 more
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, 2022 Preparation of (±)-(2-aminoethyl)(3-(cyclohexylmethoxy)phenyl)(imino)-ƛ6-sulfanone ((±)-9, (±)-RPE65-61).
Aravindan Jayaraman (6583211) +8 more
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PLoS Medicine, 2006 BackgroundRPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins.
Alexis-Pierre Bemelmans +8 more
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ERG responses of (±)-RPE65-61 treated LIRD mice.
, 2022 Retina photoreceptor function was measured by ERG 5 days after light exposure. (A) Comparison of averaged scotopic a-wave amplitudes from three mouse groups. Seven different stimulus intensities were used, ranging from 0.002 to 400 cd s/m2.
Aravindan Jayaraman (6583211) +8 more
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A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis
Chinese Medical Journal, 2017 Background: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16%
Jing Liu, Juan Bu
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Stem Cells International, 2021 Human induced pluripotent stem cells (hiPSCs) generated from patients and the derivative retinal cells enable the investigation of pathological and novel variants in relevant cell populations.
Benjamin M. Nash +12 more
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Retinal pigment epithelium 65 kDa protein (RPE65): An update [PDF]
, 2022 Vertebrate vision critically depends on an 11-cis-retinoid renewal system known as the visual cycle. At the heart of this metabolic pathway is an enzyme known as retinal pigment epithelium 65 kDa protein (RPE65), which catalyzes an unusual, possibly
Kiser, Philip D
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Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee [PDF]
, 2023 Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in ...
한진우, 변석호
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PLoS ONE, 2012 In order to maintain visual sensitivity at all light levels, the vertebrate eye possesses a mechanism to regenerate the visual pigment chromophore 11-cis retinal in the dark enzymatically, unlike in all other taxa, which rely on photoisomerization.
Eugenia Poliakov +7 more
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Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.
PLoS ONE, 2009 Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages. Retinal degeneration in Rpe65(-/-)
Séverine Hamann +2 more
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