RPE65 gene

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

Papers overview

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2011
2011
Mutations in the MYO7A gene cause a deaf-blindness disorder, known as Usher syndrome 1B.  In the retina, the majority of MYO7A is… (More)
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2010
2010
Stargardt disease (STGD) is the major form of inherited juvenile macular degeneration. Pyridinium bis-retinoid A2E is a major… (More)
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2008
2008
PURPOSE Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of… (More)
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Highly Cited
2007
Highly Cited
2007
Previous studies have tested gene replacement therapy in RPE65-deficient dogs using recombinant adeno-associated virus 2/2 (rAAV2… (More)
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2007
2007
RPE65 is a retinal pigment epithelial protein essential for the regeneration of 11-cis-retinal, the chromophore of cone and rod… (More)
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2006
2006
RPE65 is the isomerohydrolase in the retinoid visual cycle essential for recycling of 11-cis retinal, the chromophore for visual… (More)
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Highly Cited
2005
Highly Cited
2005
RPE65 is an abundant protein in the retinal pigment epithelium. Mutations in RPE65 are associated with inherited retinal… (More)
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2005
2005
PURPOSE RPE65 is an abundant protein necessary for the synthesis of the chromophore 11-cis retinal by the retinal pigment… (More)
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2000
2000
PURPOSE We have been engaged in an ongoing study to screen candidate genes for mutations in small families with various forms of… (More)
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Highly Cited
1997
Highly Cited
1997
Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a heterogeneous group of disorders affecting rod… (More)
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