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
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2020
Mechanisms of mutant PDE6 proteins underlying retinal diseases.
Gopalakrishna KN et al.
Cellular Signalling, 2017
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
Cheguru P et al.
Molecular and Cellular Neurosciences, 2015
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T et al.
Human Molecular Genetics, 2011
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA et al.
American Journal of Human Genetics, 2009
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