Associated Papers
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction.
Dell'Orco D et al.
Cellular and Molecular Life Sciences : Cmls, 2014
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
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K et al.
Biomed Research International, 2013
Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
Kohl S et al.
Advances in Experimental Medicine and Biology, 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
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Kitiratschky VB et al.
Human Mutation, 2009
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