Article
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
Molecular vision - 20 Apr 2004
Tucker Chandra L, Ramamurthy Visvanathan, Pina Ana-Luisa, Loyer Magali, Dharmaraj Sharola, Li Yingying, Maumenee Irene H, Hurley James B, Koenekoop Robert K
Abstract excerpt
PURPOSE: Recessive mutations in GUCY2D, the gene encoding the retinal guanylyl cyclase protein, RetGC-1, have been shown to cause Leber Congenital Amaurosis (LCA), a severe retinal dystrophy. The purpose of this study was to determine the functional consequences of selected mutations in GUCY2Dlinked to LCA. The mutations investigated in this study map to the catalytic domain (P858S, L954P) and the extracellular...
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