ArticleHuman molecular genetics2014
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- Dysfunction of α2δ4 leads to photoreceptor degeneration through disrupted synaptic mitochondria and calcium crosstalk.Cell death & disease · 2026Article
- Exploring the potential for gene therapy in Cav1.4-related retinal channelopathies.Channels (Austin, Tex.) · 2025Review
- Quantitative Proteomics Identifies Potential Molecular Adaptations in Mouse Models of Congenital Stationary Night Blindness Type 2.Molecular & cellular proteomics : MCP · 2025Article
- Gene therapy shines light on congenital stationary night blindness for future cures.Journal of translational medicine · 2025Review
- Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum ofInternational journal of molecular sciences · 2024Article
- Mouse all-cone retina models of Cav1.4 synaptopathy.Frontiers in molecular neuroscience · 2023Article
- Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.Molecular genetics & genomic medicine · 2022Article
- Inherited Retinal Degeneration: PARP-Dependent Activation of Calpain Requires CNG Channel Activity.Biomolecules · 2022Article
- Cav1.4 dysfunction and congenital stationary night blindness type 2.Pflugers Archiv : European journal of physiology · 2021Review
- Function of cone and cone-related pathways in CaScientific reports · 2021Article
- Synaptic ribbons foster active zone stability and illumination-dependent active zone enrichment of RIM2 and Cav1.4 in photoreceptor synapses.Scientific reports · 2020Article
- Rescue of Rod Synapses by Induction of Cav Alpha 1F in the Mature Cav1.4 Knock-Out Mouse Retina.Investigative ophthalmology & visual science · 2019Article
- Photoreceptor degeneration in a new Cacna1f mutant mouse model.Experimental eye research · 2019Article
- Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.The Journal of clinical investigation · 2018Article
- Relevance of tissue specific subunit expression in channelopathies.Neuropharmacology · 2018Review
- Channeling Vision: CaBioMed research international · 2018Review
- Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Channels (Austin, Tex.) · 2018Article
- Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity.BioMed research international · 2018Article
- Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.Investigative ophthalmology & visual science · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in CACNA1F encoding the α1-subunit of the retinal Cav1.4 L-type calcium channel have been linked to Cav1.4 channelopathies including incomplete congenital stationary night blindness type 2A (CSNB2), Åland Island eye disease (AIED) and cone-rod dystrophy type 3 (CORDX3). Since CACNA1F is located on the X chromosome, Cav1.4 channelopathies are typically affecting male patients via X-chromosomal recessive inheritance. Occasionally, clinical symptoms have been observed in female carriers, too. It is currently unknown how these mutations lead to symptoms in carriers and how the retinal network in these females is affected. To investigate these clinically important issues, we compared retinal phenotypes in Cav1.4-deficient and Cav1.4 heterozygous mice and in human female carrier patients. Heterozygous Cacna1f carrier mice have a retinal mosaic consistent with differential X-chromosomal inactivation, characterized by adjacent vertical columns of affected and non-affected wild-type-like retinal network. Vertical columns in heterozygous mice are well comparable to either the wild-type retinal network of normal mice or to the retina of homozygous mice. Affected retinal columns display pronounced rod and cone photoreceptor synaptopathy and cone degeneration. These changes lead to vastly impaired vision-guided navigation under dark and normal light conditions and reduced retinal electroretinography (ERG) responses in Cacna1f carrier mice. Similar abnormal ERG responses were found in five human CACNA1F carriers, four of which had novel mutations. In conclusion, our data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic CSNB2.
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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.