Associated Papers
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
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
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Marino V et al.
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
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
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
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
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