Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies
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Petra Behnen
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.
©2010 by Walter de Gruyter Berlin New York
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Artikel in diesem Heft
- Guest Editorial
- Highlight: Molecular Neurobiology
- HIGHLIGHT: MOLECULAR NEUROBIOLOGY
- Actin-mediated gene expression in neurons: the MRTF-SRF connection
- RIM proteins and their role in synapse function
- Brain tumor stem cells
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- Live cell imaging of cytoskeletal dynamics in neurons using fluorescence photoactivation
- REVIEWS
- Contributions of the Ah receptor to bilirubin homeostasis and its antioxidative and atheroprotective functions
- Cathepsin L in metastatic bone disease: therapeutic implications
- GENES AND NUCLEIC ACIDS
- Activity-based selection of HIV-1 reverse transcriptase variants with decreased polymerization fidelity
- CELL BIOLOGY AND SIGNALING
- Multiple protective functions of catalase against intercellular apoptosis-inducing ROS signaling of human tumor cells
- Molecular characterisation of ‘transmembrane protein 192’ (TMEM192), a novel protein of the lysosomal membrane
- PROTEOLYSIS
- Functional study of elafin cleaved by Pseudomonas aeruginosa metalloproteinases
