Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

Science

Volumn 273, Issue 5279, 1996, Pages 1236-1239

  Gelb, Bruce D ^a   Shi, Guo Ping ^b   Chapman, Harold A ^b   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN; COMPLEMENTARY DNA; LYSOSOME ENZYME; MESSENGER RNA; PROTEINASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHONDRODYSPLASIA; CHROMOSOME 1Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; LYSOSOME; OSTEOCLAST; OSTEOLYSIS; OSTEOSCLEROSIS; PRIORITY JOURNAL; SHORT STATURE;

EID: 0029809357     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.273.5279.1236     Document Type: Article

References (35)

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16. Cathepsin S enzymatic activity was assayed in lymphoblast lysates by fluorometry with the substrate Z-Val-Val-Arg-NHMec (Bachen Feinchemikalien AG, Bubendorf, Switzerland) after inactivation of cathepsins B, L, and H at 40°C [H. Kirschke and B. Wiederanders, Methods Enzymol. 244, 500 (1994)]. Enzymatic activity of the control lysosomal enzyme, α-galactosidase A, was determined by fluorometry [ D. F. Bishop and R. J. Desnick, J. Biol. Chem. 256, 1307 (1982)].
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35. We thank J. Zhang for technical assistance; P. Maroteaux and D. Wilson for providing access to the Moroccan and American Pycno families, respectively; and S. J. Weiss for assistance in preparing cathepsin K antibodies. Supported in part by National Institutes of Health grants 5R37 DK34045 and R01 DK31775 (to R.J.D.) and R01 HL44816 (to H.A.C.), a grant from the National Center for Research Resources for the Mount Sinai General Clinical Research Center (5 M01 RR00071), a Basil O'Connor Starter Scholar Award from the March of Dimes (B.D.G.), an American Heart Association grant-in-aid (B.D.G.), a grant for the Mount Sinai Child Health Research Center (5 P30 HD 28822), and the Mount Sinai Children's Center Fund.