Article
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Endocrinology - 1 Jun 2007
Balemans Wendy, Van Hul Wim
Abstract excerpt
A few years ago, human genetic studies provided compelling evidence that the low-density lipoprotein receptor-related protein 5 (LRP5) is involved in the regulation of bone homeostasis because pathogenic LRP5 mutations were found in monogenic conditions with abnormal bone density. On the one hand, the osteoporosis pseudoglioma syndrome results from loss of function of LRP5, whereas on the other hand,...
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