[HTML][HTML] LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST

MV Semenov, X He - Journal of Biological Chemistry, 2006 - ASBMB
The low density lipoprotein (LDL) receptor-related protein 5 (LRP5) is a co-receptor for Wnt
proteins and a major regulator in bone homeostasis. Human genetic studies have shown
that recessive loss-of-function mutations in LRP5 are linked to osteoporosis, while on the
contrary, dominant missense LRP5 mutations are associated with high bone mass (HBM)
diseases. All LRP5 HBM mutations are clustered in a single region in the LRP5 extracellular
domain and presumably result in elevated Wnt signaling in bone forming cells. Here we …