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Calcium Signalling and Disease pp 71–91Cite as

Guanylate Cyclase-Activating Proteins and Retina Disease

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Part of the book series: Subcellular Biochemistry ((SCBI,volume 45))

Abstract

Detailed biochemical, structural and physiological studies of the role of Ca 2+ -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 Ca 2+ concentrations. Disruption of Ca 2+ 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 Ca 2+ homeostasis processes

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah 84112-5339, U.S.A

    W. BAEHR

  2. Department of Pharmacology, Case School of Medicine, Case Western Reserve University, Cleveland, Ohio 44106-4965, U.S.A

    K. PALCZEWSKI

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  1. W. BAEHR
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  1. University of Padova, Padova, Italy

    Ernesto Carafoli

  2. University of Padova, Padova, Italy

    Marisa Brini

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BAEHR, W., PALCZEWSKI, K. (2007). Guanylate Cyclase-Activating Proteins and Retina Disease. In: Carafoli, E., Brini, M. (eds) Calcium Signalling and Disease. Subcellular Biochemistry, vol 45. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-6191-2_4

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