Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis

@inproceedings{Sabatelli2012ExpressionOC,
  title={Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis},
  author={Patrizia Sabatelli and Francesca Gualandi and Sudheer Kumar Gara and Paolo Grumati and Alessandra Zamparelli and Elena Martoni and Camilla Pellegrini and Luciano Merlini and Alessandra Ferlini and Paolo Bonaldo and Nadir M. Maraldi and Mats Paulsson and Stefano Squarzoni and Raimund Wagener},
  booktitle={Matrix biology : journal of the International Society for Matrix Biology},
  year={2012}
}
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 identified in humans, the α5 and α6 chains, however their distribution patterns and… CONTINUE READING