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RPE65 gene

Known as: retinal pigment epithelium-specific protein 65kDa, retinol isomerase, BCO3 
National Institutes of Health

Related topics

Related topics

2 relations
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)retinoid isomerohydrolase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis
Abstract Purpose: To investigate genetic and clinical features of patients with Leber congenital amaurosis (LCA) caused by RPE65… 
Highly Cited
2013
Highly Cited
2013
Retinal Pigmented Epithelial Cells Obtained from Human Induced Pluripotent Stem Cells Possess Functional Visual Cycle Enzymes in Vitro and in Vivo*
Background: The visual (retinoid) cycle activity in human iPS-derived RPE (hiPS-RPE) cells has not been fully examined. Results… 
2012
2012
Design and Characterization of Heteroleptic Ruthenium Complexes Containing Benzimidazole Ligands for Dye-Sensitized Solar Cells: The Effect of Fluorine Substituents on Photovoltaic Performance.
We designed heteroleptic ruthenium complexes (RD12-RD15) containing fluoro-substituted benzimidazole ligands for dye-sensitized… 
2010
2010
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease
Stargardt disease (STGD) is the major form of inherited juvenile macular degeneration. Pyridinium bis-retinoid A2E is a major… 
Highly Cited
2009
Highly Cited
2009
RPE65, Visual Cycle Retinol Isomerase, Is Not Inherently 11-cis-specific
The mechanism of retinol isomerization in the vertebrate retina visual cycle remains controversial. Does the isomerase enzyme… 
Highly Cited
2008
Highly Cited
2008
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
PURPOSE Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of… 
Highly Cited
2007
Highly Cited
2007
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
RPE65 is a retinal pigment epithelial protein essential for the regeneration of 11-cis-retinal, the chromophore of cone and rod… 
Highly Cited
2007
Highly Cited
2007
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium
Previous studies have tested gene replacement therapy in RPE65-deficient dogs using recombinant adeno-associated virus 2/2 (rAAV2… 
Highly Cited
2005
Highly Cited
2005
Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium
2003
2003
Down-regulation of RPE65 protein expression and promoter activity by retinoic acid.
PURPOSE RPE65 is critical for the normal formation of 11-cis retinal and thus photoreceptor function. Opsin expressed in HEK293… 
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