Article
Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.
Proceedings of the National Academy of Sciences of the United States of America - 18 Oct 2005
Bär Harald, Mücke Norbert, Kostareva Anna, Sjöberg Gunnar, Aebi Ueli, Herrmann Harald
Abstract excerpt
Desmin is the major intermediate filament (IF) protein of muscle. Recently, mutations of the desmin gene have been reported to cause familial or sporadic forms of human skeletal, as well as cardiac, myopathy, termed desmin-related myopathy (DRM). The impact of any of these mutations on filament assembly and integration into the cytoskeletal network of myocytes is currently not understood, despite the fact that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.