Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
暂无分享,去创建一个
J. Lupski | P. Gouras | P. Sieving | S. Jacobson | A. D. den Hollander | R. Lewis | E. Zrenner | G. Antiñolo | J. Heckenlively | D. Stockton | M. Baiget | S. Yzer | G. Utermann | A. Janecke | C. Hübner | B. Wissinger | C. Ayuso | Kecia L. Feathers | Debra Thompson | C. McHenry | A. Gal | Jessica Lange | G. Rammesmayer | J. Lange | Debra Thompson
[1] Edward N Pugh,et al. The Retinal G Protein-coupled Receptor (RGR) Enhances Isomerohydrolase Activity Independent of Light*[boxs] , 2005, Journal of Biological Chemistry.
[2] G. Travis,et al. Rpe65 Is the Retinoid Isomerase in Bovine Retinal Pigment Epithelium , 2005, Cell.
[3] J. D. Bronson,et al. Role of Photoreceptor-specific Retinol Dehydrogenase in the Retinoid Cycle in Vivo* , 2005, Journal of Biological Chemistry.
[4] P. Nelson,et al. Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. , 2005, Biochemistry.
[5] Ying Chen,et al. RPE65 is the isomerohydrolase in the retinoid visual cycle. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[6] T. Aleman,et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[7] P. Nelson,et al. Delayed Dark Adaptation in 11-cis-Retinol Dehydrogenase-deficient Mice , 2005, Journal of Biological Chemistry.
[8] A. Munnich,et al. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. , 2004, American journal of human genetics.
[9] D. Farber,et al. Cloning and Characterization of Two New Retinol Dehydrogenases (RDH15 and RDH16) from Cone–dominant Retinas and RPE , 2004 .
[10] J. Heckenlively,et al. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy , 2004, Nature Genetics.
[11] David Baker,et al. Protein Structure Prediction Using Rosetta , 2004, Numerical Computer Methods, Part D.
[12] R. Desnick,et al. Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele , 2003, Human mutation.
[13] Debra Thompson,et al. Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases , 2003, Progress in Retinal and Eye Research.
[14] Jens Meiler,et al. Rosetta predictions in CASP5: Successes, failures, and prospects for complete automation , 2003, Proteins.
[15] P. Nelson,et al. Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina* 210 , 2002, The Journal of Biological Chemistry.
[16] Ying Chen,et al. Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE. , 2002, Investigative ophthalmology & visual science.
[17] Richard Bonneau,et al. De novo prediction of three-dimensional structures for major protein families. , 2002, Journal of molecular biology.
[18] Christopher Bystroff,et al. Fully automated ab initio protein structure prediction using I-STES, HMMSTR and ROSETTA , 2002, ISMB.
[19] B. Persson,et al. Biochemical Defects in 11-cis-Retinol Dehydrogenase Mutants Associated with Fundus Albipunctatus* , 2001, The Journal of Biological Chemistry.
[20] J. Lupski,et al. Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. , 2001, Investigative ophthalmology & visual science.
[21] Jeannie Chen,et al. A photic visual cycle of rhodopsin regeneration is dependent on Rgr , 2001, Nature Genetics.
[22] P. Sieving,et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy , 2001, Nature Genetics.
[23] Jean Bennett,et al. Gene therapy restores vision in a canine model of childhood blindness , 2001, Nature Genetics.
[24] V. Thorsson,et al. HMMSTR: a hidden Markov model for local sequence-structure correlations in proteins. , 2000, Journal of molecular biology.
[25] T. Aleman,et al. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[26] J. Nathans,et al. Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol* , 2000, The Journal of Biological Chemistry.
[27] J. C. Saari. Biochemistry of visual pigment regeneration: the Friedenwald lecture. , 2000, Investigative ophthalmology & visual science.
[28] J. C. Saari,et al. High-performance liquid chromatography analysis of visual cycle retinoids. , 2000, Methods in enzymology.
[29] T. Dryja,et al. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa , 1999, Nature Genetics.
[30] T. Dryja,et al. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus , 1999, Nature Genetics.
[31] T. Dryja,et al. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. , 1999, Investigative ophthalmology & visual science.
[32] D. Bok,et al. Molecular and Biochemical Characterization of Lecithin Retinol Acyltransferase* , 1999, The Journal of Biological Chemistry.
[33] H. Dietz,et al. Nonsense-mediated mRNA decay in health and disease. , 1999, Human molecular genetics.
[34] Richard Bonneau,et al. Ab initio protein structure prediction of CASP III targets using ROSETTA , 1999, Proteins.
[35] D. Bok,et al. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle , 1998, Nature Genetics.
[36] J. Lupski,et al. A novel locus for Leber congenital amaurosis on chromosome 14q24 , 1998, Human Genetics.
[37] L. Lebioda,et al. Molecular Characterization of a Novel Short-chain Dehydrogenase/Reductase That Reduces All-trans-retinal* , 1998, The Journal of Biological Chemistry.
[38] Birgit Lorenz,et al. Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy , 1997, Nature Genetics.
[39] U. Hellman,et al. The Retinal Pigment Epithelial-specific 11-cis Retinol Dehydrogenase Belongs to the Family of Short Chain Alcohol Dehydrogenases (*) , 1995, The Journal of Biological Chemistry.
[40] J. Crabb,et al. Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. , 1994, The Journal of biological chemistry.