The juvenile myoclonic epilepsy mutant of the calcium channel ?(4) subunit displays normal nuclear targeting in nerve and muscle cells.
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ABSTRACT:
SUBMITTER: Etemad S
PROVIDER: S-EPMC4203735 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells.
Etemad Solmaz S Campiglio Marta M Obermair Gerald J GJ Flucher Bernhard E BE
Channels (Austin, Tex.) 20140101 4
Voltage-gated calcium channels regulate gene expression by controlling calcium entry through the plasma membrane and by direct interactions of channel fragments and auxiliary β subunits with promoters and the epigenetic machinery in the nucleus. Mutations of the calcium channel β(4) subunit gene (CACNB4) cause juvenile myoclonic epilepsy in humans and ataxia and epileptic seizures in mice. Recently a model has been proposed according to which failed nuclear translocation of the truncated β(4) su ...[more]
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