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
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V et al.
Human Molecular Genetics, 2015
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
Cheguru P et al.
Molecular and Cellular Neurosciences, 2015
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T et al.
Human Molecular Genetics, 2011
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Chang B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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