Article
Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice.
The Journal of clinical investigation - 1 Jan 2012
Shim Jae-Hyuck, Greenblatt Matthew B, Singh Anju, Brady Nicholas, Hu Dorothy, Drapp Rebecca, Ogawa Wataru, Kasuga Masato, Noda Tetsuo, Yang Sang-Hwa, Lee Sang-Kyou, Rebel Vivienne I, Glimcher Laurie H
Abstract excerpt
Mutations in the coactivator CREB-binding protein (CBP) are a major cause of the human skeletal dysplasia Rubinstein-Taybi syndrome (RTS); however, the mechanism by which these mutations affect skeletal mineralization and patterning is unknown. Here, we report the identification of 3-phosphoinositide-dependent kinase 1 (PDK1) as a key regulator of CBP activity and demonstrate that its functions map to both...
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