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Connective tissue alterations in Fkbp10−/− mice

28 Apr 2014

Abstract excerpt

Osteogenesis imperfecta (OI) is an inherited brittle bone disorder characterized by bone fragility and low bone mass. Loss of function mutations in FK506-binding protein 10 (FKBP10), encoding the FKBP65 protein, result in recessive OI and Bruck syndrome, of which the latter is additionally characterized by joint contractures. FKBP65 is thought to act as a collagen chaperone, but it is unknown how loss of FKBP65...

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PMID: 24777781
DOI: 10.1093/hmg/ddu197

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