ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2004
Molecular basis of an inherited form of incomplete achromatopsia.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 59 citations in OpenAlex.
- Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.Investigative ophthalmology & visual science · 2025Article
- Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.Scientific reports · 2023Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.Communications biology · 2022Article
- Achromatopsia: Genetics and Gene Therapy.Molecular diagnosis & therapy · 2022Review
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient withInternational journal of molecular sciences · 2021Article
- Generation of Nonhuman Primate Model of Cone Dysfunction throughMolecular therapy. Methods & clinical development · 2020Article
- p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.Frontiers in cell and developmental biology · 2020Article
- An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.Experimental eye research · 2018Article
- Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.European journal of human genetics : EJHG · 2015Article
- Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels.Frontiers in physiology · 2015Article
- Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.JAMA ophthalmology · 2014Article
- Kinetics of ligand-receptor interaction reveals an induced-fit mode of binding in a cyclic nucleotide-activated protein.Biophysical journal · 2013Article
- Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.Molecular vision · 2013Article
- In vivo imaging of the photoreceptor mosaic of a rod monochromat.Vision research · 2008Article
- Function and dysfunction of CNG channels: insights from channelopathies and mouse models.Molecular neurobiology · 2007Review
- Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.Human genetics · 2007Article
- Gating of cyclic nucleotide-gated (CNGA1) channels by cGMP jumps and depolarizing voltage steps.Biophysical journal · 2006Article
- Effects of permeating ions and cGMP on gating and conductance of rod-type cyclic nucleotide-gated (CNGA1) channels.The Journal of physiology · 2004Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia. Here we analyze the molecular basis of achromatopsia in two siblings with residual cone function. Psychophysical and electroretinographic analyses show that the light sensitivity of the cone system is lowered, and the signal transfer from cones to secondary neurons is perturbed. Both siblings carry two mutant CNGA3 alleles that give rise to channel subunits with different single-amino acid substitutions. Heterologous expression revealed that only one mutant forms functional channels, albeit with grossly altered properties, including changes in Ca2+ blockage and permeation. Surprisingly, coexpression of this mutant subunit with CNGB3 rescues the channel phenotype, except for the Ca2+ interaction. We argue that these alterations are responsible for the perturbations in light sensitivity and synaptic transmission.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.