Article
Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo.
The American journal of pathology - 1 Nov 2005
Henriksen Kim, Gram Jeppe, Høegh-Andersen Pernille, Jemtland Rune, Ueland Thor, Dziegiel Morten H, Schaller Sophie, Bollerslev Jens, Karsdal Morten A
Abstract excerpt
Autosomal dominant osteopetrosis type I (ADOI) is presumably caused by gain-of-function mutations in the LRP5 gene. Patients with a T253I mutation in LRP5 have a high bone mass phenotype, characterized by increased mineralizing surface index but abnormally low numbers of small osteoclasts. To investigate the effect of the T253I mutation in LRP5 on osteoclasts, we isolated CD14+ monocytes from ADOI patients and...
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