Focus on Molecules: RPE65, the visual cycle retinol isomerase

Experimental Eye Research

Volumn 88, Issue 5, 2009, Pages 846-847

  Redmond, T Michael ^a  

^a NATIONAL EYE INSTITUTE   (United States)

Author keywords

isomerase; Leber congenital amaurosis; retinal pigment epithelium; RPE65; visual cycle

Indexed keywords

ISOMERASE; RPE65 ENZYME; UNCLASSIFIED DRUG;

DISEASE SEVERITY; ENZYME ACTIVITY; HUMAN; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA DEGENERATION; RETINA DYSTROPHY; SHORT SURVEY; VISUAL SYSTEM;

ANIMALS; CARRIER PROTEINS; EYE PROTEINS; HUMANS; MICE; MUTATION; RETINAL DEGENERATION;

EID: 64849085783     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2008.07.015     Document Type: Short Survey

References (4)

1. Redmond T.M., Poliakov E., Yu S., Tsai J.Y., Lu Z., and Gentleman S. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc. Natl. Acad. Sci. U.S.A. 102 (2005) 13658-13663
2. Redmond T.M., Yu S., Lee E., Bok D., Hamasaki D., Chen N., Goletz P., Ma J.X., Crouch R.K., and Pfeifer K. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet. 20 (1998) 344-351
3. Thompson D.A., Gyurus P., Fleischer L.L., Bingham E.L., McHenry C.L., Apfelstedt-Sylla E., Zrenner E., Lorenz B., Richards J.E., Jacobson S.G., Sieving P.A., and Gal A. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Investig. Ophthalmol. Vis. Sci. 41 (2000) 4293-4299
4. Travis G.H., Golczak M., Moise A.R., and Palczewski K. Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. Ann. Rev. Pharmacol. Toxicol. 47 (2007) 469-512