Ontology highlight
ABSTRACT:
SUBMITTER: Macias MJ
PROVIDER: S-EPMC1828897 | biostudies-other | 2007 Apr
REPOSITORIES: biostudies-other
Macías María J MJ Teijido Oscar O Zifarelli Giovanni G Martin Pau P Ramirez-Espain Ximena X Zorzano Antonio A Palacín Manuel M Pusch Michael M Estévez Raúl R
The Biochemical journal 20070401 1
Myotonia is a state of hyperexcitability of skeletal-muscle fibres. Mutations in the ClC-1 Cl- channel cause recessive and dominant forms of this disease. Mutations have been described throughout the protein-coding region, including three sequence variations (A885P, R894X and P932L) in a distal C-terminal stretch of residues [CTD (C-terminal domain) region] that are not conserved between CLC proteins. We show that surface expression of these mutants is reduced in Xenopus oocytes compared with wi ...[more]