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• W2011482016 abstract "Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant muscle disease which has been linked to point mutations in the skeletal muscle L‐type calcium channel α 1 subunit ( α 1 S ). Here, we have introduced one of the point mutations causing HypoPP (R528H) into cDNA of the rabbit α 1 S . Expression of either the wild‐type α 1S or the mutant R528H α 1 S ( α 1 S − R 528 H ) subunit was obtained in mouse Ltk − cell using a selectable expression vector. The α 1 S − R 528 H subunit led to the expression of functional L‐type Ca 2+ channels. Corresponding whole‐cell Ba 2+ currents exhibit very slow activation and inactivation kinetics, typical for recombinant skeletal Ca 2+ channel currents. Voltage‐dependent activation and inactivation properties were similar for α 1 S ‐and α 1 S − R 528 H , as well as their sensitivity to the dihydropyridine agonist Bay K 8644. Differences in α 1 S ‐and α 1 S − R 528 H ‐directed channels reside in the Ba 2+ current density, which was significantly reduced 3.2 fold in cells expressing α 1 S − R 528 H . It was concluded that the R528H mutation of α 1 S results in minor differences in the electrophysiological properties but significantly reduces the whole‐cell Ca 2+ channel current in its amplitude." @default.
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• W2011482016 date "1996-03-18" @default.
• W2011482016 modified "2023-10-03" @default.
• W2011482016 title "Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle <i>α</i>_1S subunit as expressed in mouse L cells" @default.
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• W2011482016 doi "https://doi.org/10.1016/0014-5793(96)00173-1" @default.
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