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Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
RPE65 is essential for isomerization of vitamin A to the visual chromophore. Mutations in RPE65 cause early-onset blindness, and Rpe65-deficient mice lack 11-cis-retinal but overaccumulate alltrans-retinyl esters in the retinal pigment epithelium (RPE). RPE65 is proposed to be a substrate chaperone...
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
National Academy of Sciences
2005
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1224626/ https://ncbi.nlm.nih.gov/pubmed/16150724 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0504167102 |
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