Article
Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking.
Matrix biology : journal of the International Society for Matrix Biology - 1 Mar 2016
Sasaki Takako, Stoop Reinout, Sakai Takao, Hess Andreas, Deutzmann Rainer, Schlötzer-Schrehardt Ursula, Chu Mon-Li, von der Mark Klaus
Abstract excerpt
The extracellular matrix protein fibulin-4 has been shown to be indispensable for elastic fiber assembly, but there is also evidence from human mutations that it is involved in controlling skeletal development and bone stability. Fibulin-4 mutations were identified in patients suffering from vascular abnormality and/or cutis laxa, and some of these patients exhibited bone fragility, arachnodactyly and joint...
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