Article
Visual consequences of molecular changes in the guanylate cyclase-activating protein.
Investigative ophthalmology & visual science - 28 Mar 2014
Stockman Andrew, Henning G Bruce, Moore Anthony T, Webster Andrew R, Michaelides Michel, Ripamonti Caterina
Abstract excerpt
PURPOSE: We characterized and modeled changes in visual performance associated with a Tyr99Cys mutation in guanylate cyclase-activating protein-1 (GCAP1) in four family members aged between 39 and 55 years old. Guanylate cyclase and its activating protein are molecules in the visual transduction pathway that restore cyclic GMP (cGMP) following its light-activated hydrolysis. The mutation causes an excess of cGMP...
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