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Article

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

PloS one - 1 Jan 2015

Tanaka Naoto, Dutrow Emily V, Miyadera Keiko, Delemotte Lucie, MacDermaid Christopher M, Reinstein Shelby L, Crumley William R, Dixon Christopher J, Casal Margret L, Klein Michael L, Aguirre Gustavo D, Tanaka Jacqueline C, Guziewicz Karina E

Abstract excerpt

Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM). ACHM is a congenital, autosomal recessive retinal disorder that manifests by cone photoreceptor dysfunction, severely reduced visual acuity, impaired or...

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Source

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Identifiers

PMID: 26407004
DOI: 10.1371/journal.pone.0138943
PMCID: PMC4583268

Genes

CNGA3
CNGB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.PMID 26407004Read ↗

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