Article
LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.
The Journal of biological chemistry - 15 Dec 2006
Semenov Mikhail V, He Xi
Abstract excerpt
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...
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