Associated Papers
cGMP Signaling in Photoreceptor Degeneration.
Li S et al.
International Journal of Molecular Sciences, 2023
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations.
Jacobson SG et al.
Iscience, 2021
33997691 (PubMed )
Supplement: mmc1.pdf
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
GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
Peshenko IV et al.
The Journal of Biological Chemistry, 2020
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
Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.
Peshenko IV et al.
The Journal of Biological Chemistry, 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
Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition.
Abbas S et al.
International Journal of Molecular Sciences, 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
Retinal guanylyl cyclase activation by calcium sensor proteins mediates photoreceptor degeneration in an rd3 mouse model of congenital human blindness.
Dizhoor AM et al.
The Journal of Biological Chemistry, 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
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