期刊
FEBS LETTERS
卷 580, 期 17, 页码 4200-4204出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2006.06.078
关键词
LRAT; retinoid; retinal degeneration; RPE; RPE65; visual cycle
资金
- NEI NIH HHS [EY 012231, EY 015650] Funding Source: Medline
RPE65, a membrane-associated protein in the retinal pigment epithelium, is the isomerohydrolase essential for regenerating 11-cis retinal, the chromophore for visual pigments. RPE65 mutations are associated with inherited retinal dystrophies. Here we report that single point mutations of RPE65, Y144D and P363T, identified in patients with Leber's congenital amaurosis (LCA), significantly decreased the stability of RPE65. Moreover, these mutations altered subcellular localization of RPE65 and abolished its isomerohydrolase activity. These observations suggest that the decreased protein stability and altered subcellular localization of RPE65 may represent a mechanism for these mutations to lead to vision loss in LCA patients. (c) 2006 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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