Results 151 to 160 of about 7,638 (169)

Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65 [PDF]

FEBS Letters, 2006
RPE65, a membrane-associated protein in the retinal pigment epithelium, is the isomerohydrolase essential for regenerating 11-cis retinal, the chromophore for visual pigments. RPE65 mutations are associated with inherited retinal dystrophies.
Yusuke Takahashi, Gennadiy Moiseyev
exaly   +2 more sources

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

Molecular Therapy, 2018
International audienceThe aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) serotypes 2 and 4 (AAV2/4) RPE65-RPE65 vector in patients with Leber congenital amaurosis ...
Michel Weber, Romain Valabrégue, Pierre Lebranchu   +2 more
exaly   +2 more sources

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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

International Journal of Molecular Sciences, 2021
Pietro Chiurazzi, Sandro Banfi, Ilaria Passerini   +2 more
exaly  

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China

Acta Ophthalmologica, 2020
Qingjiong Zhang, Wenmin Sun, Panfeng Wang   +2 more
exaly  

Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa

Human Gene Therapy, 2023
Robin R Ali, Debra Thompson
exaly  

Safety of Recombinant Adeno-Associated Virus Type 2–RPE65 Vector Delivered by Ocular Subretinal Injection

Molecular Therapy, 2006
Artur V Cideciyan, William W Hauswirth, Terence R Flotte   +2 more
exaly  

Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

Gene Therapy, 2006
Knut Stieger, Robin R Ali, Y Cherel
exaly  

Rpe65 as a modifier gene for inherited retinal degeneration

European Journal of Neuroscience, 2006
Christian Grimm, Marijana Samardzija, C E Reme   +2 more
exaly  

Membrane-binding and enzymatic properties of RPE65

Progress in Retinal and Eye Research, 2010
Krzysztof Palczewski, Philip D Kiser
exaly  

RPE65 gene therapy slows cone loss in Rpe65-deficient dogs

Gene Therapy, 2012
Simon M Petersen-Jones, Freya M Mowat, James W. Bainbridge   +2 more
exaly