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Article

Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.

Advances in experimental medicine and biology - 1 Jan 2010

Ding Xi-Qin, Fitzgerald J Browning, Quiambao Alexander B, Harry Cynthia S, Malykhina Anna P

Abstract excerpt

Cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the cone channel subunits CNGA3 and CNGB3 are linked to achromatopsia and progressive cone dystrophy in humans. Over 50 mutations have been identified in the CNGA3 subunit. The R277C and R283W substitutions are among the most frequently occurring mutations. This study investigated the...

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Source

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Identifiers

PMID: 20238023
DOI: 10.1007/978-1-4419-1399-9_28
PMCID: PMC3370940

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.

Related research

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Research trail→

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Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.PMID 20238023Read ↗

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.Semantic proximity Read ↗

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.Semantic proximity Read ↗

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).Semantic proximity Read ↗

Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.Semantic proximity Read ↗

Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.Semantic proximity Read ↗

The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.Semantic proximity Read ↗

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

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.Semantic proximity Read ↗

<i>CNGB3</i>Achromatopsia with Progressive Loss of Residual Cone Function and Impaired Rod-Mediated FunctionSemantic proximity Read ↗

Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.Semantic proximity Read ↗

Molecular basis of an inherited form of incomplete achromatopsia.Semantic proximity Read ↗

Achromatopsia: Genetics and Gene Therapy.Semantic proximity Read ↗

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