ArticleChannels (Austin, Tex.)
Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
Article in Channels (Austin, Tex.). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 97 citations in OpenAlex.
- Gene therapy induces synaptic ribbon maturation, synaptogenesis and vision recovery in an adult dog model of retinal degeneration.Molecular therapy. Advances · 2026Article
- Dysfunction of α2δ4 leads to photoreceptor degeneration through disrupted synaptic mitochondria and calcium crosstalk.Cell death & disease · 2026Article
- Quantitative Proteomics Identifies Potential Molecular Adaptations in Mouse Models of Congenital Stationary Night Blindness Type 2.Molecular & cellular proteomics : MCP · 2025Article
- Exploring the potential for gene therapy in Cav1.4-related retinal channelopathies.Channels (Austin, Tex.) · 2025Review
- Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
- A non-conducting role of the CaeLife · 2024Article
- Cellular and Molecular Mechanisms Regulating Retinal Synapse Development.Annual review of vision science · 2024Review
- A non-conducting role of the CabioRxiv : the preprint server for biology · 2024Article
- Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum ofInternational journal of molecular sciences · 2024Article
- Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels.Channels (Austin, Tex.) · 2023Article
- Progenitor division and cell autonomous neurosecretion are required for rod photoreceptor sublaminar positioning.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- βII-Spectrin Is Required for Synaptic Positioning during Retinal Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.International journal of molecular sciences · 2023Article
- Ribbon Synapses and Retinal Disease: Review.International journal of molecular sciences · 2023Review
- Mouse all-cone retina models of Cav1.4 synaptopathy.Frontiers in molecular neuroscience · 2023Article
- Post-developmental plasticity of the primary rod pathway allows restoration of visually guided behaviors.Current biology : CB · 2022Article
- Calcium Channels in Retinal Function and Disease.Annual review of vision science · 2022Review
- Embryonic Hyperglycemia Delays the Development of Retinal Synapses in a Zebrafish Model.International journal of molecular sciences · 2022Article
- Cavβ1 regulates T cell expansion and apoptosis independently of voltage-gated CaNature communications · 2022Article
18 more citing papers are in PubMed but not listed here.
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7 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the gene encoding Cav 1.4, CACNA1F, are associated with visual disorders including X-linked incomplete congenital stationary night blindness type 2 (CSNB2). In mice lacking Cav 1.4 channels, there are defects in the development of "ribbon" synapses formed between photoreceptors (PRs) and second-order neurons. However, many CSNB2 mutations disrupt the function rather than expression of Cav 1.4 channels. Whether defects in PR synapse development due to altered Cav 1.4 function are common features contributing to the pathogenesis of CSNB2 is unknown. To resolve this issue, we profiled changes in the subcellular distribution of Cav 1.4 channels and synapse morphology during development in wild-type (WT) mice and mouse models of CSNB2. Using Cav 1.4-selective antibodies, we found that Cav 1.4 channels associate with ribbon precursors early in development and are concentrated at both rod and cone PR synapses in the mature retina. In mouse models of CSNB2 in which the voltage-dependence of Cav 1.4 activation is either enhanced (Cav 1.4I756T) or inhibited (CaBP4 KO), the initial stages of PR synaptic ribbon formation are largely unaffected. However, after postnatal day 13, many PR ribbons retain the immature morphology. This synaptic abnormality corresponds in severity to the defect in synaptic transmission in the adult mutant mice, suggesting that lack of sufficient mature synapses contributes to vision impairment in Cav 1.4I756T and CaBP4 KO mice. Our results demonstrate the importance of proper Cav 1.4 function for efficient PR synapse maturation, and that dysregulation of Cav 1.4 channels in CSNB2 may have synaptopathic consequences.
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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.