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T78M cav-3 induces complex modifications in ion channel function that ultimately alter membrane excitability and thus generate a susceptible substrate that, in concert with other structural alterations and/or genetic mutations, may become arrhythmogenic.
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Case series demonstrates that exercise intolerance, myalgia and rhabdomyolysis may be caused by CAV3 mutations and broadens phenotypic spectrum of caveolinopathies. Percussion-induced rapid muscle contractions were seen in 5 of 6 patients. A previously reported heterozygous mutation in CAV3 (p.T78M) and 3 novel variants (p.V14I, p.F41S, p.F54V) were identified. >50% reduction of caveolin-3 in 5 patients vs controls.
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our study indicates that TASK-1 is functionally regulated by caveolin-3, possibly via association with each other on the cell surface. These results point out a novel mechanism in the regulation of TASK-1.
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The caveolin 3 G56S variant is not a clearly pathogenic mutation, but may influence cellular functions and morphologies resulting in an increased cellular vulnerability in terms of a modifying factor.
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Our results indicate that HCN4 channel function is modulated by cav-3. LQTS-associated mutations of cav-3 differentially influence pacemaker current properties indicating a pathophysiological role in clinical manifestations.
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This study demonstrated that the Caveolin-3 is aberrantly expressed in skeletal muscle cells in myasthenia gravis.
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Study characterized the secondary structure, dynamics, and topology of a lipidated full-length human Cav3 construct, demonstrated that the N-terminal domain undergoes a dramatic topological rearrangement in both micelles and vesicles that is reversibly mediated by pH
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The Cav3 P104L mutation of limb girdle muscular dystrophy-1C leads to disordered glucose metabolism in muscle cells.
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Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest Cav3 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles.
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MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma.
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This study demonstrated that cav3 mutation in stinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation in Greece.
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In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
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We identified three novel sequence variations (c.183C>G, p.S61R; c.220C>A, p.R74S; c.220C>T, p.R74C) and found evidence that one was associated with hypercreatine kinase-emia
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our results indicate that inhibition of Cav3 currents by 5,6-epoxyeicosatrienoic acid is an important mechanism controlling the vascular tone.
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detrimental effect of Cav-3 V82I variant on cell viability may participate in determining the susceptibility to cardiac death.
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The caveolin-3:p.T78M did not exhibit a long-QT syndrome phenotype.
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Cav3 is an important negative regulator for cardiac late sodium cutrrent via nNOS dependent direct S-nitrosylation of SCN5A.
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data show a developmental change in HCN4-Cav3 association in human embryonic stem cell-derived cardiomyocytes. Cav3 expression and its association with ionic channels likely represent a crucial step of cardiac maturation
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A very high prevalence of previously SIDS-associated variants was identified in exome data from population studies.
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Kir2.1 loss of function is additive to the increase in late sodium current, prolonging repolarization and leading to arrhythmia generation in Cav3-mediated long qt syndrome 9.
