Associated Papers
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Rasmussen DK et al.
Orphanet Journal of Rare Diseases, 2025
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Identification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide-Gated A3 Channels.
Täger J et al.
Molecular Pharmacology, 2021
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R et al.
International Journal of Molecular Sciences, 2021
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
26407004 (PubMed )
Supplement: pone.0138943.s008.docx
Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.
Gofman Y et al.
Plos Computational Biology, 2014
25474149 (PubMed )
Supplement: pcbi.1003976.s013.pdf
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
Koeppen K et al.
Human Mutation, 2010
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
Muraki-Oda S et al.
Biochemical and Biophysical Research Communications, 2007
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi KM et al.
Human Mutation, 2005
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B et al.
American Journal of Human Genetics, 2001
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