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

Blood

Volumn 96, Issue 5, 2000, Pages 1969-1978

  Moran, M T ^a   Schofield, J P ^a   Hayman, A R ^a   Shi, G P ^a   Young, E ^a   Cox, T M ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; CATHEPSIN B; CATHEPSIN K; CATHEPSIN S; COMPLEMENTARY DNA; CYSTEINE PROTEINASE; GLYCOLIPID; MESSENGER RNA;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GAUCHER DISEASE; GENE EXPRESSION; HUMAN; HUMAN TISSUE; LYSOSOME STORAGE DISEASE; MALE; OSTEOCLAST; OSTEOLYSIS; PATHOGENESIS; PRIORITY JOURNAL; SPLEEN; TUMOR SUPPRESSOR GENE;

EID: 0034284271     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.5.1969.h8001969_1969_1978     Document Type: Article

References (73)

1. Metabolism of glucocerebrosidase, II: Evidence of an enzymatic deficiency in Gaucher's disease
2. Gaucher's disease: Molecular, genetics and enzymological aspects
3. Gaucher disease
4. Surface marker and other characteristics of Gaucher cellls
5. Gaucher's disease: Clinical features and natural history
6. Glucosyl ceramide lipidosis: Gaucher's disease
7. Glucosylceramide and related compounds in normal tissues and in Gaucher disease
8. Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures
9. Plasma tumor necrosis factor (TNF-α) levels in Gaucher disease
10. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10
11. Plasma and metabolic abnormalities in Gaucher's disease
12. Suppression subtractive hybridization a method for generating differentially regulated or tissue-specific cDNA probes and libraries
13. DNA sequencing with dye-labeled terminators and T7 DNA polymerase: Effect of dyes and dNTPs on incorporation of dye-terminators and probability analysis of termination fragment
14. A technique for radio labelling DNA restriction endonuclease fragments to high specific activity
15. Cleavage of Structural Proteins during the assembly of the head of bacteriophage T4
16. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications
17. Fluorimetric assays for cathepsin B and H with methylcoumarylamide substrate
18. Proteolytic activity of human osteoclast cathepsin K: Expression, purification, activation and substrate identification
19. Cloning of a cDNA encoding chitotriosidase: A human chitinase produced by macrophages
20. Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher's disease
21. Type 5 acid phosphatase: Sequence, expression and chromosome localization of a differentiation-associated protein of the human macrophage
22. Molecular cloning of a cDNA for human-L-fucosidase
23. The sequence of cDNA encoding lipoprotein lipase: A membr of a lipase gene family
24. Nucleotide and predicted amino acid sequences of cloned human and mouse preprocathepsin B cDNA's
25. Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution
26. Molecular cloning of human cDNA for cathepsin K: Novel cysteine proteases predominantly expressed in bone
27. Molecular cloning and expression of human alveolar macrophage cathepsin S, an elastinolytic cysteine protease
28. Cathepsin S from bovine spleen: Purification, distribution, intracellular localization and actions on proteins
29. A novel core glycoprotein as well as polymorphic epitherlial mucin carry peanut agglutinin binding sites in human gastric carcinoma cells: Sequence analysis and examination of gene expression
30. Nmb: A novel gene is expressed in low-metastatic human melanoma cell lines and xenografts
31. Partial primary structure of the 48 and 90 kilodalton core proteins of cell surface associated heparin sulfate proteoglycans of lung fibroblasts
32. A surrogate 15 Kda JCK protein is expressed in combination with a heavy chain by human B cell precursors
33. A novel human CC chemokine PARC that is most homologous to macrophage-inflammatory protein- 1α/LD78α and chemotactic for T lymphocytes but not for monocytes
34. Differences in cathepsin B mRNA levels in rat tissues suggest specialized functions
35. Human osteoclastomas contain multiple forms of cathepsin B
36. Enhanced levels of cathepsin B mRNA in murine tumors
37. Expression of five cathepsins in murine melanomas of varying metastatic potential and normal tissues
38. Gaucher disease: Clinical, laboratory, radiologic and genetic features of 52 patients
39. Serial analysis of gene expression in human monocytes and macrophages
40. Human cathepsin 02, a matrix protein-degrading cysteine protease expressed in osteoclasts
41. Degradation of bone matrix proteins by osteoclast cathepsins
42. Expression of the elastolytic cathepsins S and K in human atherosclerosis and regulation of their production in smooth muscle cells
43. Sequence analysis, tissue distribution and expression of rat cathepsin S
44. Impaired invariant chain degradation and antigen presentation and diminished collagen-induced arthritis in cathepsin S null mice
45. Cathepsin K but not cathepsins B, L or S is abundantly expressed in human osteoclasts
46. Fluorescence microscopic demonstration of cathepsin K activity as the major lysosomal cysteine proteinase in osteoclasts
47. The specificity of cathepsin B: Hydrolysis of glucagon at the C-terminus by a peptidylpeptidase mechanism
48. Porcine spleen cathepsin B as an exopeptidase
49. Maturation and degradation of beta galactosidase in the post-Golgi compartment are regulated by cathepsin B and a non-cysteine protease
50. Thyroglobulin processing by thyroidal proteases: Major sites of cleavage by cathepsins B, D and L
51. Identification of renal cathepsin B as a human protein processing enzyme
52. Cathepsin B in osteoarthritis: Cytochemical and histochemical analysis of human femoral head cartilage
53. Cathepsin B in synovial cells at the site of joint destruction in rheumatoid arthritis
54. 2+ -activated, and ubiquitin-proteasome proteolytic pathways
55. The role of proteolytic enzymes in cancer invasion and metastasis
56. Cathepsin B and other proteases in human colorectal carcinoma
57. Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice
58. Mechanism of mineral solubilization and matrix degradation in osteoclastic bone resorption
59. Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice
60. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
61. Crystal structure of human osteoclast cathepsin K complex with E-64
62. Human cathepsin S: Chromosomal localization, gene structure and tissue distribution
63. Cathepsin S required for normal MHC Class II peptide loading and germinal center development
64. Cathepsin S activity regulates antigen presentation and immunity
65. Specific catalytic activity of cathepsin S in comparison to cathepsin B and C along the rat nephron
66. Molecular cloning and expression of human alveolar macrophage cathepsin S: An elastinolytic cysteine protease
67. A comparison of four cathepsins (B, L, N and S) with collagenolytic activity from rabbit spleen
68. Expression of the elastinolytic cathepsins S and K in human atheroma and regulation of their production in smooth muscle cells
69. Genomic organization and chromosome localization of human cathepsin K gene (CTSK)
70. Cloning and characterization of the 5'-flanking region of the mouse tartrate-resistant acid phosphatase gene