Associated Papers
Missense mutations affecting Ca2+-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.
Dal Cortivo G et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity.
Hoyo NL et al.
Plos Genetics, 2014
Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors.
Olshevskaya EV et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.
Behnen P et al.
Biological Chemistry, 2010
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.
Wilkie SE et al.
American Journal of Human Genetics, 2001
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