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

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 invest...

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Detalhes bibliográficos
Main Authors: Henriksen, Kim, Gram, Jeppe, Høegh-Andersen, Pernille, Jemtland, Rune, Ueland, Thor, Dziegiel, Morten H., Schaller, Sophie, Bollerslev, Jens, Karsdal, Morten A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2005
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Original Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1603785/
https://ncbi.nlm.nih.gov/pubmed/16251418
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