Associated Papers
Phosphodiesterase 5 expression in photoreceptors rescues retinal degeneration induced by deregulation of membrane guanylyl cyclase.
Dizhoor AM et al.
The Journal of Biological Chemistry, 2025
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M et al.
Progress in Retinal and Eye Research, 2024
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
Structural basis of retinal membrane guanylate cyclase regulation by GCAP1 and RD3.
Ames JB
Frontiers in Molecular Neuroscience, 2022
Structural Insights into Retinal Guanylate Cyclase Activator Proteins (GCAPs).
Ames JB
International Journal of Molecular Sciences, 2021
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M et al.
Clinical & Experimental Ophthalmology, 2021
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
Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.
Dell'Orco D et al.
Scientific Reports, 2019
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
Gill JS et al.
The British Journal of Ophthalmology, 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
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.
Marino V et al.
Human Molecular Genetics, 2018
GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.
Sato S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.
Dizhoor AM et al.
The Journal of Biological Chemistry, 2016
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
Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).
Peshenko IV et al.
The Journal of Biological Chemistry, 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
Structural diversity of neuronal calcium sensor proteins and insights for activation of retinal guanylyl cyclase by GCAP1.
Lim S et al.
Frontiers in Molecular Neuroscience, 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
cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function.
Xu J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
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
Structural insights for activation of retinal guanylate cyclase by GCAP1.
Lim S et al.
Plos One, 2013
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
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.
Buch PK et al.
Plos One, 2011
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
GCAP1 mutations associated with autosomal dominant cone dystrophy.
Jiang L et al.
Advances in Experimental Medicine and Biology, 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
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
Jiang L et al.
Vision Research, 2008
Effects of metal-binding loop mutations on ligand binding to calcium- and integrin-binding protein 1. Evolution of the EF-hand?
Yamniuk AP et al.
Biochemistry, 2008
Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.
Woodruff ML et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Guanylate cyclase-activating proteins and retina disease.
Baehr W et al.
Sub-cellular Biochemistry, 2007
The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.
Stephen R et al.
Journal of Molecular Biology, 2006
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
Michaelides M et al.
Ophthalmology, 2005
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I et al.
Investigative Ophthalmology & Visual Science, 2005
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
Sato M et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2005
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
Jiang L et al.
Molecular Vision, 2005
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
Nishiguchi KM et al.
Investigative Ophthalmology & Visual Science, 2004
Guanylate cyclase-activating proteins: structure, function, and diversity.
Palczewski K et al.
Biochemical and Biophysical Research Communications, 2004
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
Vincent AL et al.
American Journal of Human Genetics, 2002
Guanylate cyclase activating proteins, guanylate cyclase and disease.
Newbold RJ et al.
Advances in Experimental Medicine and Biology, 2002
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
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Michaelides M et al.
Survey of Ophthalmology, 0