[HTML][HTML] Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate α2β1 …
N Zoppi, R Gardella, A De Paepe, S Barlati… - Journal of Biological …, 2004 - ASBMB
Dermal fibroblasts derived from types I and IV Ehlers-Danlos syndrome (EDS) patients,
carrying mutations in COL5A1 and COL3A1 genes, respectively, synthesize aberrant types
V and III collagen (COLL) and show defective organization of these proteins into the
extracellular matrix (ECM) and high reduction of their functional receptor, the α 2 β 1 integrin,
compared with control fibroblasts. EDS cells also show reduced levels of fibronectin (FN) in
the culture medium and lack an FN fibrillar network. Finally, EDS cells prevalently organize α …
carrying mutations in COL5A1 and COL3A1 genes, respectively, synthesize aberrant types
V and III collagen (COLL) and show defective organization of these proteins into the
extracellular matrix (ECM) and high reduction of their functional receptor, the α 2 β 1 integrin,
compared with control fibroblasts. EDS cells also show reduced levels of fibronectin (FN) in
the culture medium and lack an FN fibrillar network. Finally, EDS cells prevalently organize α …
