Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. - Wikidata - awgldk - TriplyDB

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

http://www.wikidata.org/entity/Q34015881

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Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial Safety and efficacy of gene transfer for Leber's congenital amaurosis NinaB combines carotenoid oxygenase and retinoid isomerase activity in a single polypeptide Crystal structure of native RPE65, the retinoid isomerase of the visual cycle Role of LRAT on the retinoid isomerase activity and membrane association of Rpe65 Palmitoyl transferase activity of lecithin retinol acyl transferase Recent advances in the dark adaptation investigations Structural basis of carotenoid cleavage: from bacteria to mammals Intracellular transport of fat-soluble vitamins A and E The many different cellular functions of MYO7A in the retina A comprehensive review of retinal gene therapy Importance of Membrane Structural Integrity for RPE65 Retinoid Isomerization Activity Human Cellular Retinaldehyde-Binding Protein Has Secondary Thermal 9- cis -Retinal Isomerase Activity Analysis of Carotenoid Isomerase Activity in a Prototypical Carotenoid Cleavage Enzyme, Apocarotenoid Oxygenase (ACO)Carotenoid Cleavage Oxygenases from Microbes and Photosynthetic Organisms: Features and Functions Identification of key residues determining isomerohydrolase activity of human RPE65 Nonvisual light responses in the Rpe65 knockout mouse: rod loss restores sensitivity to the melanopsin system.RPE65 is present in human green/red cones and promotes photopigment regeneration in an in vitro cone cell model Catalytic mechanism of a retinoid isomerase essential for vertebrate vision Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial RPE65, visual cycle retinol isomerase, is not inherently 11-cis-specific: support for a carbocation mechanism of retinol isomerization Membrane-binding and enzymatic properties of RPE65 Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness Chemistry of the retinoid (visual) cycle A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro Alpha-phenyl-N-tert-butylnitrone (PBN) prevents light-induced degeneration of the retina by inhibiting RPE65 protein isomerohydrolase activity Localizations of visual cycle components in retinal pigment epithelium Metabolic basis of visual cycle inhibition by retinoid and nonretinoid compounds in the vertebrate retina RDH13L, an enzyme responsible for the aldehyde-alcohol redox coupling reaction (AL-OL coupling reaction) to supply 11-cis retinal in the carp cone retinoid cycle The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65 Origin and evolution of retinoid isomerization machinery in vertebrate visual cycle: hint from jawless vertebrates Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis Chemistry and biology of the initial steps in vision: the Friedenwald lecture.Predicting the pathogenicity of RPE65 mutations.Comparative sequence analyses of rhodopsin and RPE65 reveal patterns of selective constraint across hereditary retinal disease mutations.PBN (Phenyl-N-Tert-Butylnitrone)-Derivatives Are Effective in Slowing the Visual Cycle and Rhodopsin Regeneration and in Protecting the Retina from Light-Induced Damage In silico Mapping of Protein Unfolding Mutations for Inherited Disease Inner retinal photoreception independent of the visual retinoid cycle.Human cone photoreceptor dependence on RPE65 isomerase

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Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

http://www.wikidata.org/entity/Q34015881

description

2005 nî lūn-bûn

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2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Mutation of key residues of RP ...... hydrolase in the visual cycle.

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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type

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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prefLabel

Mutation of key residues of RP ...... hydrolase in the visual cycle.

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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Mutation of key residues of RP ...... hydrolase in the visual cycle.

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PNAS.0504167102

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Proceedings of the National Academy of Sciences of the United States of America

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Mutation of key residues of RP ...... ohydrolase in the visual cycle

@en

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Eugenia Poliakov

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Jen-Yue Tsai

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Shirley Yu

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Susan Gentleman

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Zhongjian Lu

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P2860

Molecular and biochemical characterization of lecithin retinol acyltransferase

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

VMD: visual molecular dynamics

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

Rpe65 is a retinyl ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells

Clinical course and visual function in a family with mutations in the RPE65 gene

The structure of a retinal-forming carotenoid oxygenase

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13658-13663

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scholarly article

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38

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102

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T. Michael Redmond

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2005-09-06T00:00:00Z

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7610855

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16150724

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1224626

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