Literature DB >> 18762184

Focus on Molecules: RPE65, the visual cycle retinol isomerase.

T Michael Redmond1.   

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Year:  2008        PMID： 18762184      PMCID： PMC2692084          DOI： 10.1016/j.exer.2008.07.015

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN： 0014-4835            Impact factor:   3.467


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  4 in total

1.  Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Authors:  D A Thompson; P Gyürüs; L L Fleischer; E L Bingham; C L McHenry; E Apfelstedt-Sylla; E Zrenner; B Lorenz; J E Richards; S G Jacobson; P A Sieving; A Gal
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-12       Impact factor: 4.799

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

Authors:  T Michael Redmond; Eugenia Poliakov; Shirley Yu; Jen-Yue Tsai; Zhongjian Lu; Susan Gentleman
Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-06       Impact factor: 11.205

Review 3.  Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents.

Authors:  Gabriel H Travis; Marcin Golczak; Alexander R Moise; Krzysztof Palczewski
Journal:  Annu Rev Pharmacol Toxicol       Date:  2007       Impact factor: 13.820

4.  Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

Authors:  T M Redmond; S Yu; E Lee; D Bok; D Hamasaki; N Chen; P Goletz; J X Ma; R K Crouch; K Pfeifer
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330
  4 in total
  18 in total

Review 1.  The retinal pigment epithelium in health and disease.

Authors:  J R Sparrow; D Hicks; C P Hamel
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

Review 2.  Chemistry of the retinoid (visual) cycle.

Authors:  Philip D Kiser; Marcin Golczak; Krzysztof Palczewski
Journal:  Chem Rev       Date:  2013-07-11       Impact factor: 60.622

3.  Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.

Authors:  Yan Li; Rachel Furhang; Amanda Ray; Todd Duncan; Joseph Soucy; Rashid Mahdi; Vijender Chaitankar; Linn Gieser; Eugenia Poliakov; Haohua Qian; Pinghu Liu; Lijin Dong; Igor B Rogozin; T Michael Redmond
Journal:  Hum Mutat       Date:  2019-01-25       Impact factor: 4.878

Review 4.  Attenuation of Inherited and Acquired Retinal Degeneration Progression with Gene-based Techniques.

Authors:  Galaxy Y Cho; Kyle Bolo; Karen Sophia Park; Jesse D Sengillo; Stephen H Tsang
Journal:  Mol Diagn Ther       Date:  2019-02       Impact factor: 4.074

Review 5.  Review and update on the molecular basis of Leber congenital amaurosis.

Authors:  Oscar Francisco Chacon-Camacho; Juan Carlos Zenteno
Journal:  World J Clin Cases       Date:  2015-02-16       Impact factor: 1.337

Review 6.  Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Authors:  Artur V Cideciyan
Journal:  Prog Retin Eye Res       Date:  2010-04-24       Impact factor: 21.198

Review 7.  Structural biology of 11-cis-retinaldehyde production in the classical visual cycle.

Authors:  Anahita Daruwalla; Elliot H Choi; Krzysztof Palczewski; Philip D Kiser
Journal:  Biochem J       Date:  2018-10-22       Impact factor: 3.857

8.  Key Residues for Catalytic Function and Metal Coordination in a Carotenoid Cleavage Dioxygenase.

Authors:  Xuewu Sui; Jianye Zhang; Marcin Golczak; Krzysztof Palczewski; Philip D Kiser
Journal:  J Biol Chem       Date:  2016-07-24       Impact factor: 5.157

9.  Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.

Authors:  Budd A Tucker; Cathryn M Cranston; Kristin A Anfinson; Suruchi Shrestha; Luan M Streb; Alejandro Leon; Robert F Mullins; Edwin M Stone
Journal:  Transl Res       Date:  2015-08-29       Impact factor: 7.012

10.  Human cellular retinaldehyde-binding protein has secondary thermal 9-cis-retinal isomerase activity.

Authors:  Christin S Bolze; Rachel E Helbling; Robin L Owen; Arwen R Pearson; Guillaume Pompidor; Florian Dworkowski; Martin R Fuchs; Julien Furrer; Marcin Golczak; Krzysztof Palczewski; Michele Cascella; Achim Stocker
Journal:  J Am Chem Soc       Date:  2013-12-20       Impact factor: 15.419
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