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Items: 1 to 20 of 136

1.

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.

Gelb BD, Shi GP, Chapman HA, Desnick RJ.

Science. 1996 Aug 30;273(5279):1236-8.

PMID:
8703060
2.

Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease.

Motyckova G, Fisher DE.

Curr Mol Med. 2002 Aug;2(5):407-21. Review.

PMID:
12125807
3.

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

Johnson MR, Polymeropoulos MH, Vos HL, Ortiz de Luna RI, Francomano CA.

Genome Res. 1996 Nov;6(11):1050-5.

4.

Structure and chromosomal assignment of the human cathepsin K gene.

Gelb BD, Shi GP, Heller M, Weremowicz S, Morton C, Desnick RJ, Chapman HA.

Genomics. 1997 Apr 15;41(2):258-62.

PMID:
9143502
5.

Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts.

Everts V, Hou WS, Rialland X, Tigchelaar W, Saftig P, Brömme D, Gelb BD, Beertsen W.

Calcif Tissue Int. 2003 Oct;73(4):380-6. Epub 2003 Jul 24.

PMID:
12874701
6.

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

Ho N, Punturieri A, Wilkin D, Szabo J, Johnson M, Whaley J, Davis J, Clark A, Weiss S, Francomano C.

J Bone Miner Res. 1999 Oct;14(10):1649-53.

7.

Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene.

Gelb BD, Moissoglu K, Zhang J, Martignetti JA, Brömme D, Desnick RJ.

Biochem Mol Med. 1996 Dec;59(2):200-6.

PMID:
8986645
8.

Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family.

Motyckova G, Weilbaecher KN, Horstmann M, Rieman DJ, Fisher DZ, Fisher DE.

Proc Natl Acad Sci U S A. 2001 May 8;98(10):5798-803. Epub 2001 May 1.

9.

Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K.

Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM.

Blood. 2000 Sep 1;96(5):1969-78.

10.

Genomic organization and chromosome localization of the human cathepsin K gene (CTSK).

Rood JA, Van Horn S, Drake FH, Gowen M, Debouck C.

Genomics. 1997 Apr 15;41(2):169-76.

PMID:
9143491
11.

The role of cathepsin K in normal bone resorption.

Troen BR.

Drug News Perspect. 2004 Jan-Feb;17(1):19-28. Review.

PMID:
14993931
12.

Erosive arthritis in a patient with pycnodysostosis: an experiment of nature.

Ainola M, Valleala H, Nykänen P, Risteli J, Hanemaaijer R, Konttinen YT.

Arthritis Rheum. 2008 Nov;58(11):3394-401. doi: 10.1002/art.23996.

13.

Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.

Haagerup A, Hertz JM, Christensen MF, Binderup H, Kruse TA.

Eur J Hum Genet. 2000 Jun;8(6):431-6.

14.

Cathepsins in the osteoclast.

Goto T, Yamaza T, Tanaka T.

J Electron Microsc (Tokyo). 2003;52(6):551-8. Review.

PMID:
14756243
15.

Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice.

Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz JD, Schu P, von Figura K.

Proc Natl Acad Sci U S A. 1998 Nov 10;95(23):13453-8.

16.

Cathepsin K and the design of inhibitors of cathepsin K.

Yamashita DS, Dodds RA.

Curr Pharm Des. 2000 Jan;6(1):1-24. Review.

PMID:
10637370
17.

Cathepsin K, but not cathepsins B, L, or S, is abundantly expressed in human osteoclasts.

Drake FH, Dodds RA, James IE, Connor JR, Debouck C, Richardson S, Lee-Rykaczewski E, Coleman L, Rieman D, Barthlow R, Hastings G, Gowen M.

J Biol Chem. 1996 May 24;271(21):12511-6.

18.

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

Schilling AF, Mülhausen C, Lehmann W, Santer R, Schinke T, Rueger JM, Amling M.

Osteoporos Int. 2007 May;18(5):659-69. Epub 2007 Jan 6.

PMID:
17206399
19.

Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification.

Bossard MJ, Tomaszek TA, Thompson SK, Amegadzie BY, Hanning CR, Jones C, Kurdyla JT, McNulty DE, Drake FH, Gowen M, Levy MA.

J Biol Chem. 1996 May 24;271(21):12517-24.

20.

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A.

Genes Dev. 1996 Dec 15;10(24):3156-69.

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