Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

@article{Gelb1996PycnodysostosisAL,
  title={Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency},
  author={B D Gelb and Guo-Ping Shi and Harold A. Chapman and Robert J. Desnick},
  journal={Science},
  year={1996},
  volume={273},
  pages={1236 - 1238}
}
Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to chromosome 1q21. Cathepsin K, a cysteine protease gene that is highly expressed in osteoclasts, localized to the pycnodysostosis region. Nonsense, missense, and stop codon mutations in the gene encoding cathepsin K were identified in patients. Transient expression of complementary DNA containing the stop codon mutation resulted in messenger RNA but no immunologically… Expand
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.
TLDR
Evidence is provided that a structural change in the signal peptide of the CK protein was involved in the pathogenesis of pycnodysostosis, and a novel missense mutation (L9P) in the sign peptide region is identified. Expand
Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein
  • N. Ho, A. Punturieri, +7 authors C. Francomano
  • Biology, Medicine
  • Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 1999
TLDR
DNA sequence analysis of the cathepsin K gene in a nonconsanguineous family demonstrated compound heterozygozity for mutations in two affected siblings, and it was demonstrated that the missense mutation was inherited from the father and the nonsense mutation from the mother. Expand
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TLDR
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TLDR
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A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.
TLDR
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Cathepsin K Deficiency in Pycnodysostosis Results in Accumulation of Non-Digested Phagocytosed Collagen in Fibroblasts
TLDR
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