Associated Papers
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
Mizobuchi K et al.
Scientific Reports, 2019
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
Marino V et al.
Human Molecular Genetics, 2015
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
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.
Jiang L et al.
Frontiers in Molecular Neuroscience, 2014
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.
Huang L et al.
Neuroscience Letters, 2013
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model.
Jiang L et al.
Plos One, 2013
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
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
Kitiratschky VB et al.
Ophthalmic Genetics, 2011
Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.
Behnen P et al.
Biological Chemistry, 2010
Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy.
Dell'Orco D et al.
Cellular and Molecular Life Sciences : Cmls, 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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