Article
Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.
The Journal of biological chemistry - 4 Sept 2020
Solomon-Degefa Herimela, Gebauer Jan M, Jeffries Cy M, Freiburg Carolin D, Meckelburg Patrick, Bird Louise E, Baumann Ulrich, Svergun Dmitri I, Owens Raymond J, Werner Jörn M, Behrmann Elmar, Paulsson Mats, Wagener Raimund
Abstract excerpt
Collagen VI is a ubiquitous heterotrimeric protein of the extracellular matrix (ECM) that plays an essential role in the proper maintenance of skeletal muscle. Mutations in collagen VI lead to a spectrum of congenital myopathies, from the mild Bethlem myopathy to the severe Ullrich congenital muscular dystrophy. Collagen VI contains only a short triple helix and consists primarily of von Willebrand factor type A...
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