Assembly defects of desmin disease mutants carrying deletions in the alpha-helical rod domain are rescued by wild type protein.

Abstract

Most mutations of desmin that cause severe autosomal dominant forms of myofibrillar myopathy are point mutations and locate in the central alpha-helical coiled-coil rod domain. Recently, two in-frame deletions of one and three amino acids, respectively, in the alpha-helix have been described and discussed to drastically interfere with the architecture of… (More)

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Cite this paper

@article{Br2007AssemblyDO, title={Assembly defects of desmin disease mutants carrying deletions in the alpha-helical rod domain are rescued by wild type protein.}, author={Harald B{\"a}r and Norbert M{\"{u}cke and Hugo A. Katus and Ueli Aebi and Harald Herrmann}, journal={Journal of structural biology}, year={2007}, volume={158 1}, pages={107-15} }