Article
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.
Proceedings of the National Academy of Sciences of the United States of America - 21 Sept 2004
Liu Xiaoqing, Bulgakov Oleg V, Wen Xiao-Hong, Woodruff Michael L, Pawlyk Basil, Yang Jun, Fain Gordon L, Sandberg Michael A, Makino Clint L, Li Tiansen
Abstract excerpt
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is a member of the FK-506-binding protein family expressed specifically in retinal photoreceptors. Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads to visual impairment in infants. Here we show that knockdown of AIPL1 expression in mice also produces a retinopathy but over a more extended time course....
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