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4. The roles of three palmitoylation sites of RPE65 in its membrane association and isomerohydrolase activity. Takahashi Y, Moiseyev G, Chen Y, Ma JX. Invest Ophthalmol Vis Sci; 2006 Dec; 47(12):5191-6. PubMed ID: 17122102 [Abstract] [Full Text] [Related]
5. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Samardzija M, von Lintig J, Tanimoto N, Oberhauser V, Thiersch M, Remé CE, Seeliger M, Grimm C, Wenzel A. Hum Mol Genet; 2008 Jan 15; 17(2):281-92. PubMed ID: 17933883 [Abstract] [Full Text] [Related]
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10. Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. Takahashi Y, Chen Y, Moiseyev G, Ma JX. J Biol Chem; 2006 Aug 04; 281(31):21820-21826. PubMed ID: 16754667 [Abstract] [Full Text] [Related]
11. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR. Mol Vis; 2005 Feb 28; 11():152-62. PubMed ID: 15765048 [Abstract] [Full Text] [Related]
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14. Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Pang JJ, Chang B, Kumar A, Nusinowitz S, Noorwez SM, Li J, Rani A, Foster TC, Chiodo VA, Doyle T, Li H, Malhotra R, Teusner JT, McDowell JH, Min SH, Li Q, Kaushal S, Hauswirth WW. Mol Ther; 2006 Mar 07; 13(3):565-72. PubMed ID: 16223604 [Abstract] [Full Text] [Related]
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16. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW. Hum Gene Ther; 2006 Aug 07; 17(8):845-58. PubMed ID: 16942444 [Abstract] [Full Text] [Related]
17. RPE65 from cone-dominant chicken is a more efficient isomerohydrolase compared with that from rod-dominant species. Moiseyev G, Takahashi Y, Chen Y, Kim S, Ma JX. J Biol Chem; 2008 Mar 28; 283(13):8110-7. PubMed ID: 18216020 [Abstract] [Full Text] [Related]
18. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG. PLoS Med; 2007 Jun 28; 4(6):e230. PubMed ID: 17594175 [Abstract] [Full Text] [Related]
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20. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ. Hum Mutat; 2001 Aug 15; 18(2):164. PubMed ID: 11462243 [Abstract] [Full Text] [Related] Page: [Next] [New Search]