Associated Papers
Supramolecular complexes of GCAP1: implications for inherited retinal dystrophies.
Biasi A et al.
International Journal of Biological Macromolecules, 2024
Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina.
Asteriti S et al.
Cellular and Molecular Life Sciences : Cmls, 2023
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.
Raimondi 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
Calmodulin variants associated with congenital arrhythmia impair selectivity for ryanodine receptors.
Dal Cortivo G et al.
Frontiers in Molecular Biosciences, 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
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
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
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
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
Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.
Avesani A et al.
The Journal of Biological Chemistry, 0