Associated Papers
Structural and functional dynamics of human cone cGMP-phosphodiesterase important for photopic vision.
Singh S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
39739818 (PubMed )
Supplement: pnas.2419732121.sapp.pdf
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Inooka T et al.
Retina (philadelphia, Pa.), 2024
Structural Analysis of the Regulatory GAF Domains of cGMP Phosphodiesterase Elucidates the Allosteric Communication Pathway.
Gupta R et al.
Journal of Molecular Biology, 2020
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2020
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh N et al.
Human Mutation, 2018
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V et al.
Ophthalmology, 2014
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