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Regulation of neuronal excitability and cardiac excitation-contraction coupling requires the proper localization of L-type Ca 2+ channels. We show that the actin-binding protein α-actinin binds to the C-terminal surface targeting motif of α 1 1.2, the central pore-forming Ca V 1.2 subunit, in order to foster its surface expression. Disruption of α-actinin function by dominant-negative...
Myotonia congenita-inducing mutations in the muscle chloride channel CLC-1 normally result in reduced open probability (Po) of this channel. One well-accepted mechanism of the dominant inheritance of this disease involves a dominant-negative effect of the mutation on the function of the common-gate of this homodimeric, double-barreled molecule. We report here a family with myotonia congenita characterized...
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