Associated Papers
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Zamurs LK et al.
The Journal of Biological Chemistry, 2015
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.
Tooley LD et al.
The Journal of Biological Chemistry, 2010
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Zhang RZ et al.
The Journal of Biological Chemistry, 2010
The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
Lamandé SR et al.
The Journal of Biological Chemistry, 2006
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