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Osteopetrosis is usually regarded as the disease of nonfunctioning osteoclasts, with a consequent accumulation of osseocartilaginous material in the bone marrow. A recent report shows that, in some patients with the rare autosomal recessive form of the disease, the osteoclast defect may be non-cell autonomous, in this case due to a mutation in RANKL, the protein that normally controls osteoclast formation and activity.

Original publication

DOI

10.1016/j.cmet.2007.08.008

Type

Journal article

Journal

Cell metab

Publication Date

09/2007

Volume

6

Pages

157 - 159

Keywords

Humans, Osteoclasts, Osteopetrosis, RANK Ligand