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| Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency |
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| Author(s): Gelb BD, Shi GP, Chapman HA, Desnick RJ |
| Source: SCIENCE Volume: 273 Issue: 5279 Pages: 1236-1238 Published: AUG 30 1996 |
| Times Cited: 434 References: 30 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Gelb, BD (reprint author), MT SINAI SCH MED, DEPT HUMAN GENET, BOX 1203, 1 GUSTAVE L LEVY PL, NEW YORK, NY 10029 USA |
Addresses:
1. MT SINAI SCH MED, DIV PEDIAT CARDIOL, NEW YORK, NY 10029 USA
2. BRIGHAM & WOMENS HOSP, DEPT MED, BOSTON, MA 02115 USA
3. HARVARD UNIV, SCH MED, BOSTON, MA 02115 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: VE476 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |