Article
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
Scientific reports - 27 Oct 2015
Ronstedt Katharina, Sternberg Damien, Detro-Dassen Silvia, Gramkow Thomas, Begemann Birgit, Becher Toni, Kilian Petra, Grieschat Matthias, Machtens Jan-Philipp, Schmalzing Günther, Fischer Martin, Fahlke Christoph
Abstract excerpt
Mutations in the muscle chloride channel gene (CLCN1) cause myotonia congenita, an inherited condition characterized by muscle stiffness upon sudden forceful movement. We here studied the functional consequences of four disease-causing mutations that predict amino acid substitutions Q43R, S70L, Y137D and Q160H. Wild-type (WT) and mutant hClC-1 channels were heterologously expressed as YFP or CFP fusion protein in...
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