Article
Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family.
Proceedings of the National Academy of Sciences of the United States of America - 8 May 2001
Motyckova G, Weilbaecher K N, Horstmann M, Rieman D J, Fisher D Z, Fisher D E
Abstract excerpt
Various genetic conditions produce dysfunctional osteoclasts resulting in osteopetrosis or osteosclerosis. These include human pycnodysostosis, an autosomal recessive syndrome caused by cathepsin K mutation, cathepsin K-deficient mice, and mitf mutant rodent strains. Cathepsin K is a highly expressed cysteine protease in osteoclasts that plays an essential role in the degradation of protein components of bone...
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