Article
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.
Matrix biology : journal of the International Society for Matrix Biology - 1 Apr 2012
Sabatelli Patrizia, Gualandi Francesca, Gara Sudheer Kumar, Grumati Paolo, Zamparelli Alessandra, Martoni Elena, Pellegrini Camilla, Merlini Luciano, Ferlini Alessandra, Bonaldo Paolo, Maraldi Nadir Mario, Paulsson Mats, Squarzoni Stefano, Wagener Raimund
Abstract excerpt
Collagen VI is a major extracellular matrix (ECM) protein with a critical role in maintaining skeletal muscle functional integrity. Mutations in COL6A1, COL6A2 and COL6A3 genes cause Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy, and Myosclerosis. Moreover, Col6a1(-/-) mice and collagen VI deficient zebrafish display a myopathic phenotype. Recently, two additional collagen VI chains were...
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