Article
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
International journal of molecular sciences - 14 Mar 2023
Zanotti Simona, Magri Francesca, Salani Sabrina, Napoli Laura, Ripolone Michela, Ronchi Dario, Fortunato Francesco, Ciscato Patrizia, Velardo Daniele, D'Angelo Maria Grazia, Gualandi Francesca, Nigro Vincenzo, Sciacco Monica, Corti Stefania, Comi Giacomo Pietro, Piga Daniela
Abstract excerpt
Collagen VI is a heterotrimeric protein expressed in several tissues and involved in the maintenance of cell integrity. It localizes at the cell surface, creating a microfilamentous network that links the cytoskeleton to the extracellular matrix. The heterotrimer consists of three chains encoded by COL6A1, COL6A2 and COL6A3 genes. Recessive and dominant molecular defects cause two main disorders, the severe...
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