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Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking

Sasaki, Takako ; Stoop, Reinout ; Sakai, Takao ; Hess, Andreas ; Deutzmann, Rainer ; Schlötzer-Schrehardt, Ursula ; Chu, Mon-Li ; von der Mark, Klaus


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, ...


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