Searchable abstracts of presentations at key conferences on calcified tissues

ba0005oc6.5 | Development and differentiation (or Aging) | ECTS2016

Absence of cyclophilin A impairs endochondral bone formation by altering intracellular signaling pathways required for osteoblast maturation

Sargent Brandi , Ishikawa Masaki , Clevenger Charles , Yamada Yoshihiko , Cabral Wayne , Marini Joan

Using a CyPB-null mouse model, we previously demonstrated delayed folding, abnormal post-translational modification and altered crosslinking of type I collagen synthesized by osteoblasts. However, intracellular folding of collagen molecules was further delayed by CsA treatment of CyPB-null cells, suggesting involvement of additional PPIases in collagen folding. Since studies of CyPA functions in osteoblasts have not been reported, we investigated the role of this cytoplasmic P...

ba0003cc3 | (1) | ECTS2014

Absence of ER cation channel TMEM38B/TRIC-B causes recessive osteogenesis imperfecta by dysregulation of collagen post-translational modification

Cabral Wayne , Makareeva Elena , Ishikawa Masaki , Barnes Aileen , MaryAnn Weis , Lacbawan Felicitas , Eyre David , Yamada Yoshihiko , Leikin Sergey , Marini Joan

Recessive osteogenesis imperfecta (OI) is caused by mutations in genes encoding proteins involved in post-translational interactions with type I collagen. A founder mutation in a new gene responsible for recessive OI has recently been reported in Bedouins from Israel and Saudi Arabia, who have a homozygous deletion of TMEM38B exon 4 and surrounding intronic sequence. TMEM38B encodes TRIC-B, an integral ER membrane monovalent cation channel involved in Ca...