Associated Papers
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
Wong WM et al.
Clinical & Experimental Ophthalmology, 2025
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
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.
Allon G et al.
Investigative Ophthalmology & Visual Science, 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
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
cGMP Signaling in Photoreceptor Degeneration.
Li S et al.
International Journal of Molecular Sciences, 2023
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.
Kazmierczak de Camargo JP et al.
Frontiers in Genetics, 2022
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
Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
Abbas S et al.
Acs Chemical Neuroscience, 2020
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
Mahroo OA et al.
Jama Ophthalmology, 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
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
A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.
Peshenko IV et al.
The Journal of Biological Chemistry, 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
Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.
Song H et al.
The British Journal of Ophthalmology, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.
Iribarne M et al.
Journal of Neurogenetics, 2017
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Vocke F et al.
Human Molecular Genetics, 2017
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 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 Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein.
Peshenko IV et al.
The Journal of Biological Chemistry, 2016
Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca2+-free/Mg2+-bound Activator State.
Lim S et al.
The Journal of Biological Chemistry, 2016
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).
Boye SE
Advances in Experimental Medicine and Biology, 2016
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
A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.
Vinberg F et al.
Human Molecular Genetics, 2015
Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
Peshenko IV et al.
The Journal of Biological Chemistry, 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 architecture of the retina: development and disease.
Hoon M et al.
Progress in Retinal and Eye Research, 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
Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).
Peshenko IV et al.
The Journal of Biological Chemistry, 2014
Visual consequences of molecular changes in the guanylate cyclase-activating protein.
Stockman A et al.
Investigative Ophthalmology & Visual Science, 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
Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.
Regus-Leidig H et al.
Plos One, 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