Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations

Item
http://www.wikidata.org/entity/Q24649177
Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific ratesRetinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomographyDynamic changes in the secondary structure of ECE-1 and XCE account for their different substrate specificities.Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Evidence that proteosome inhibitors and chemical chaperones can rescue the activity of retinol dehydrogenase 12 mutant T49M.Key enzymes of the retinoid (visual) cycle in vertebrate retinaRDH12 retinopathy: novel mutations and phenotypic description.Conditional Ablation of Retinol Dehydrogenase 10 in the Retinal Pigmented Epithelium Causes Delayed Dark Adaption in Mice.Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stressEffect of lipid peroxidation products on the activity of human retinol dehydrogenase 12 (RDH12) and retinoid metabolism.Rdh12 activity and effects on retinoid processing in the murine retina.Limited roles of Rdh8, Rdh12, and Abca4 in all-trans-retinal clearance in mouse retina.Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
P2860

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations

Item
http://www.wikidata.org/entity/Q24649177
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年论文
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name
Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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type
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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Novel RDH12 mutations associat ...... mical and clinical evaluations
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10.1016/J.VISRES.2007.04.005
P407
P433
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P921
P932