ArticleMolecular brain2012
The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels.
Article in Molecular brain, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 15 citations in OpenAlex.
- Structural bases of inhibitory mechanism of CaNature communications · 2024Article
- Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder.Translational psychiatry · 2022Article
- Calcium Channel Splice Variants and Their Effects in Brain and Cardiovascular Function.Advances in experimental medicine and biology · 2021Article
- Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.Journal of clinical medicine · 2019Article
- Rapid Turnover of the Cardiac L-Type CaiScience · 2018Article
- Alternative Splicing at N Terminus and Domain I Modulates CaBiophysical journal · 2018Article
- Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.Channels (Austin, Tex.) · 2018Review
- Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.Nature communications · 2015Article
- Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels.Molecular brain · 2014Article
- What can naturally occurring mutations tell us about Ca(v)1.x channel function?Biochimica et biophysica acta · 2013Review
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2 authors at 1 institution in 1 country.
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Abstract
backgroundA loss of function of the L-type calcium channel, Cav1.2, results in a cardiac specific disease known as Brugada syndrome. Although many Brugada syndrome channelopathies reduce channel function, one point mutation in the N-terminus of Cav1.2 (A39V) has been shown to elicit disease a phenotype because of a loss of surface trafficking of the channel. This lack of cell membrane expression could not be rescued by the trafficking chaperone Cavβ.
findingsWe report that despite the striking loss of trafficking described previously in the cardiac Cav1.2 channel, the A39V mutation while in the background of the brain isoform traffics and functions normally. We detected no differences in biophysical properties between wild type Cav1.2 and A39V-Cav1.2 in the presence of either a cardiac (Cavβ2b), or a neuronal beta subunit (Cavβ1b). In addition, the A39V-Cav1.2 mutant showed a normal Cavβ2b mediated increase in surface expression in tsA-201 cells.
conclusionsThe Brugada syndrome mutation A39V when introduced into rat brain Cav1.2 does not trigger the loss-of-trafficking phenotype seen in a previous study on the human heart isoform of the channel.
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