Article
Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.
The Journal of biological chemistry - 28 Jun 2013
Mizuno Kazunori, Boudko Sergei, Engel Jürgen, Bächinger Hans Peter
Abstract excerpt
Vascular Ehlers-Danlos syndrome (EDS) type IV is the most severe form of EDS. In many cases the disease is caused by a point mutation of Gly in type III collagen. A slower folding of the collagen helix is a potential cause for over-modifications. However, little is known about the rate of folding of type III collagen in patients with EDS. To understand the molecular mechanism of the effect of mutations, a system...
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