ba0001pp501 | Other diseases of bone and mineral metabolism | ECTS2013
Cabral Wayne
, Perdivara Irina
, MaryAnn Weis
, Terajima Masahiko
, Blissett Angela
, Chang Weizhong
, Makareeva Elena
, Leikin Sergey
, Eyre David
, Yamauchi Mitsuo
Introduction: Recessive osteogenesis imperfecta (OI) is caused by mutations in genes encoding proteins involved in post-translational interactions with type I collagen. Types VIIIX OI involve defects in the collagen prolyl 3-hydroxylation complex, which modifies α1(I)Pro986. PPIB encodes CyPB, a complex component with PPIase activity and the major isomerase facilitating collagen folding. We investigated the role of CyPB in collagen post-translational modifications a...