| First Author | Gelb BD | Year | 1996 |
| Journal | Science | Volume | 273 |
| Issue | 5279 | Pages | 1236-8 |
| PubMed ID | 8703060 | Mgi Jnum | J:47500 |
| Mgi Id | MGI:1203643 | Doi | 10.1126/science.273.5279.1236 |
| Citation | Gelb BD, et al. (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273(5279):1236-8 |
| abstractText | 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 detectable protein. Thus, pycnodysostosis results from gene defects in a lysosomal protease with highest expression in osteoclasts. These findings suggest that cathepsin K is a major protease in bone resorption, providing a possible rationale for the treatment of disorders such as osteoporosis and certain forms of arthritis. |
