Journal
FEBS LETTERS
Volume 580, Issue 17, Pages 4200-4204Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2006.06.078
Keywords
LRAT; retinoid; retinal degeneration; RPE; RPE65; visual cycle
Funding
- NEI NIH HHS [EY 012231, EY 015650] Funding Source: Medline
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available