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
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
Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.
Tang S et al.
Molecular Vision, 2019
CaF2 nanoparticles as surface carriers of GCAP1, a calcium sensor protein involved in retinal dystrophies.
Marino V et al.
Nanoscale, 2017
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.
Chen X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.
Nong E et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 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