Article
Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.
Human molecular genetics - 1 Feb 2017
Kroeger Jasmin K, Hofmann Silke C, Leppert Juna, Has Cristina, Franzke Claus-Werner
Abstract excerpt
The function and stability of collagens depend on the accurate triple helix formation of three distinct polypeptide chains. Disruption of this triple-helical structure can result in connective-tissue disorders. Triple helix formation is thought to depend on three-stranded coiled-coil oligomerization sites within non-collagenous domains. However, only little is known about the physiological relevance of these...
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