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Biological Chemistry

Editor-in-Chief: Brüne, Bernhard

Editorial Board Member: Buchner, Johannes / Ludwig, Stephan / Sies, Helmut / Turk, Boris / Wittinghofer, Alfred

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Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies

Petra Behnen1 / Daniele Dell'Orco1 / Karl-Wilhelm Koch1

1Department of Biology and Environmental Sciences, Biochemistry Group, University of Oldenburg, D-26111 Oldenburg, Germany

Corresponding author

Citation Information: Biological Chemistry. Volume 391, Issue 6, Pages 631–637, ISSN (Online) 1437-4315, ISSN (Print) 1431-6730, DOI: 10.1515/bc.2010.063, April 2010

Publication History

Received:
2009-11-30
Accepted:
2010-02-15
Published Online:
2010-04-06

Abstract

Progressive visual impairment leading to blindness is often associated with inherited retinal dystrophies. These disorders correlate in most cases with mutations in genes that code for proteins of the visual transduction system in rod and cone photoreceptor cells. Recent progress has highlighted the involvement of a neuronal calcium sensor protein that is specifically expressed in rod and cone cells and operates as a guanylate cyclase-activating protein (GCAP). A group of patients suffering from cone or cone-rod dystrophies carry mutations in the GCAP1 gene, and biochemical analysis of GCAP1 function revealed that for most of these mutations GCAP1 exhibits a disturbance in its Ca2+-sensing and its guanylate cyclase-activating properties. Cellular consequences of different GCAP1 mutations are compared and discussed.

Keywords: calcium sensor; cGMP; phototransduction; retinal disease

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Valerio Marino, Alessandra Astegno, Marco Pedroni, Fabio Piccinelli, and Daniele Dell'Orco
Nanoscale, 2014, Volume 6, Number 1, Page 412
[2]
Valerio Marino, Stefan Sulmann, Karl-Wilhelm Koch, and Daniele Dell'Orco
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2014
[3]
Xiao-Hong Wen, Alexander M Dizhoor, and Clint L Makino
Frontiers in Molecular Neuroscience, 2014, Volume 7
[4]
Daniele Dell’Orco, Stefan Sulmann, Patrick Zägel, Valerio Marino, and Karl-Wilhelm Koch
Cellular and Molecular Life Sciences, 2014, Volume 71, Number 19, Page 3829
[5]
Patrick Zägel, Daniele Dell’Orco, and Karl-Wilhelm Koch
Biochemistry, 2013, Volume 52, Number 30, Page 5065
[6]
Cristina Martínez-Fernández de la Cámara, Ma Dolores Sequedo, Ulises Gómez-Pinedo, Teresa Jaijo, Elena Aller, Patricia García-Tárraga, José Manuel García-Verdugo, José María Millán, and Regina Rodrigo
Experimental Eye Research, 2013, Volume 111, Page 122
[7]
Karl-Wilhelm Koch and Daniele Dell’Orco
ACS Chemical Neuroscience, 2013, Volume 4, Number 6, Page 909
[8]
Gerald Thiel
Biological Chemistry, 2010, Volume 391, Number 6

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