Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.

@article{Ho1999MutationsOC,
  title={Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.},
  author={Nicola C Y Ho and Antonello Punturieri and Douglas J. Wilkin and Jinny Szabo and Michelle Johnson and Justine Whaley and John Davis and Angela P Clark and Stefan Weiss and Clair A. Francomano},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={1999},
  volume={14 10},
  pages={1649-53}
}
Pycnodyostosis, an autosomal recessive osteosclerosing skeletal disorder, has recently been shown to result from mutations in the cathepsin K gene. Cathepsin K, a lysosomal cysteine protease with an abundant expression in osteoclasts, has been implicated in osteoclast-mediated bone resorption and remodeling. DNA sequence analysis of the cathepsin K gene in a nonconsanguineous family demonstrated compound heterozygozity for mutations in two affected siblings. We have identified a missense… CONTINUE READING
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