ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2004
The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
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 95 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
95 citing papers in PubMed, 1 synthesis or guideline pooled it, 185 citations in OpenAlex.
- Concomitant Calcium Channelopathies InvolvingGenes · 2023Pooled it
- Human lymphatic vessel contractile activity is inhibited in vitro but not in vivo by the calcium channel blocker nifedipine.The Journal of physiology · 2014Trial
- Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs.BMC veterinary research · 2026Article
- Comparative DCMS analysis reveals a novel breed-specific X-linked selection signature in Changthangi sheep.Frontiers in genetics · 2026Article
- Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
- Systemic gene expression mapping of voltage-gated calcium channel α1-subunits in cats.Open veterinary journal · 2025Article
- Article
- Inactivation of CaV1 and CaV2 channels.The Journal of general physiology · 2025Review
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- 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
- RNA profiling of sEV (small extracellular vesicles)/exosomes reveals biomarkers and vascular endothelial dysplasia with moyamoya disease.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2023Article
- CaV1 and CaV2 calcium channels mediate the release of distinct pools of synaptic vesicles.eLife · 2023Article
- Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.Frontiers in genetics · 2023Article
- Regulation of Presynaptic Calcium Channels.Advances in neurobiology · 2023Article
- Article
- Cav1.4 dysfunction and congenital stationary night blindness type 2.Pflugers Archiv : European journal of physiology · 2021Review
- Transmission at rod and cone ribbon synapses in the retina.Pflugers Archiv : European journal of physiology · 2021Review
- A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.Frontiers in genetics · 2021Article
- Functions of Presynaptic Voltage-gated Calcium Channels.Function (Oxford, England) · 2021Review
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutamate release from rod photoreceptors is dependent on a sustained calcium influx through L-type calcium channels. Missense mutations in the CACNA1F gene in patients with incomplete X-linked congenital stationary night blindness implicate the Ca(v)1.4 calcium channel subtype. Here, we describe the functional and pharmacological properties of transiently expressed human Ca(v)1.4 calcium channels. Ca(v)1.4 is shown to encode a dihydropyridine-sensitive calcium channel with unusually slow inactivation kinetics that are not affected by either calcium ions or by coexpression of ancillary calcium channel beta subunits. Additionally, the channel supports a large window current and activates near -40 mV in 2 mM external calcium, making Ca(v)1.4 ideally suited for tonic calcium influx at typical photoreceptor resting potentials. Introduction of base pair changes associated with four incomplete X-linked congenital night blindness mutations showed that only the G369D alteration affected channel activation properties. Immunohistochemical analyses show that, in contrast with previous reports, Ca(v)1.4 is widely distributed outside the retina, including in the immune system, thus suggesting a broader role in human physiology.
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Registered trials
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.