title: Guanylate cyclase-activating proteins and retina disease.
abstract: Detailed biochemical, structural and physiological studies of the role of Ca2(+)-binding proteins in mammalian retinal neurons have yielded new insights into the function of these proteins in normal and pathological states. In phototransduction, a biochemical process that is responsible for the conversion of light into an electrical impulse, guanylate cyclases (GCs) are regulated by GC-activating proteins (GCAPs). These regulatory proteins respond to changes in cytoplasmic Ca2+ concentrations. Disruption of Ca2+ homeostasis in photoreceptor cells by genetic and environmental factors can result ultimately in degeneration of these cells. Pathogenic mutations in GC1 and GCAP1 cause autosomal recessive Leber congenital amaurosis and autosomal dominant cone dystrophy, respectively. This report provides a recent account of the advances, challenges, and possible future prospects of studying this important step in visual transduction that transcends to other neuronal Ca2+ homeostasis processes.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah 84112-5339, USA
authors.forename: W
authors.initials: W
authors.lastname: Baehr
authors.forename: K
authors.initials: K
authors.lastname: Palczewski
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D020013:Calcium Signaling / Q000502:physiology; D020832:EF Hand Motifs; D004789:Enzyme Activation; D006162:Guanylate Cyclase / Q000235:genetics / Q000378:metabolism*; D051604:Guanylate Cyclase-Activating Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D010786:Photoreceptor Cells / Q000502:physiology; D012164:Retinal Diseases / Q000503:physiopathology*; D016415:Sequence Alignment; D014785:Vision, Ocular / Q000502:physiology
chemical_list: D051604:Guanylate Cyclase-Activating Proteins; D006162:Guanylate Cyclase