Article
Impact of disease mutations on the desmin filament assembly process.
Journal of molecular biology - 28 Jul 2006
Bär Harald, Mücke Norbert, Ringler Philippe, Müller Shirley A, Kreplak Laurent, Katus Hugo A, Aebi Ueli, Herrmann Harald
Abstract excerpt
It has been documented that mutations in the human desmin gene lead to a severe type of myofibrillar myopathy, termed more specifically desminopathy, which affects cardiac and skeletal as well as smooth muscle. We showed recently that 14 recombinant versions of these disease-causing desmin variants, all involving single amino acid substitutions in the alpha-helical rod domain, interfere with in vitro filament...
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