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Volumn 343, Issue 1-2, 2004, Pages 145-153

Biochemical study on β-glucosidase in individuals with Gaucher's disease and normal subjects

Author keywords

Glucosidase; Chitotriosidase; Gaucher's disease; Lysosomal storage diseases and sphingolipidosis

Indexed keywords

BETA GLUCOSIDASE; CHITOTRIOSIDASE; ENZYME; GLYCOSPHINGOLIPID; UNCLASSIFIED DRUG;

EID: 11144356490     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2004.01.010     Document Type: Article
Times cited : (19)

References (20)
  • 2
    • 2042424321 scopus 로고
    • Overview: Gaucher disease, molecular, medicine and therapeutics
    • Esplin J.A. Overview: Gaucher disease, molecular, medicine and therapeutics. Gauch. Clin. Perspect. 2:1994;1-16
    • (1994) Gauch. Clin. Perspect. , vol.2 , pp. 1-16
    • Esplin, J.A.1
  • 3
    • 0033911997 scopus 로고    scopus 로고
    • Analysis and classification of 304 mutants alleles in patients with type I and type III Gaucher disease
    • Koprivica V., Stone D.L., Park J.K., et al. Analysis and classification of 304 mutants alleles in patients with type I and type III Gaucher disease. Am. J. Med. Gen. 66:2000;1777-1786
    • (2000) Am. J. Med. Gen. , vol.66 , pp. 1777-1786
    • Koprivica, V.1    Stone, D.L.2    Park, J.K.3
  • 4
    • 0032910315 scopus 로고    scopus 로고
    • Gaucher's disease: A model for modern management of a Genetic disease
    • Mistry P.K. Gaucher's disease: a model for modern management of a Genetic disease. J. Hepatol. 30:1999;1-5
    • (1999) J. Hepatol. , vol.30 , pp. 1-5
    • Mistry, P.K.1
  • 5
    • 0014882816 scopus 로고
    • The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of β-glucosidase activity in peripheral blood leucocytes
    • Beutler E., Kuhl W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of β-glucosidase activity in peripheral blood leucocytes. J. Lab. Clin. Med. 76:1970;747-754
    • (1970) J. Lab. Clin. Med. , vol.76 , pp. 747-754
    • Beutler, E.1    Kuhl, W.2
  • 6
    • 0018055529 scopus 로고
    • Diagnosis of Gaucher's disease in cultured skin fibroblasts and leukocytes
    • Butterworth J., Broadhead D.M. Diagnosis of Gaucher's disease in cultured skin fibroblasts and leukocytes. J. Inherit. Metab. Dis. 1:1978;111-113
    • (1978) J. Inherit. Metab. Dis. , vol.1 , pp. 111-113
    • Butterworth, J.1    Broadhead, D.M.2
  • 7
    • 0017869313 scopus 로고
    • Factors that influence the uptake and turnover of glucocerebrosidase and alpha-galactosidase in mammalian liver
    • Pentchev P.G., Kusiak J.W., Barranger J.A., et al. Factors that influence the uptake and turnover of glucocerebrosidase and alpha-galactosidase in mammalian liver. Adv. Exp. Med. 101:1978;745-750
    • (1978) Adv. Exp. Med. , vol.101 , pp. 745-750
    • Pentchev, P.G.1    Kusiak, J.W.2    Barranger, J.A.3
  • 8
    • 0019020017 scopus 로고
    • Séparation par électrofocalisation des formes moléculaires de la beta-glucosidase splénique chez le sujet normal et au cours de la maladie de Gaucher
    • Maret A., Salvayre R., Nègre A. Séparation par électrofocalisation des formes moléculaires de la beta-glucosidase splénique chez le sujet normal et au cours de la maladie de Gaucher. Biomédecine. 33:1980;82-86
    • (1980) Biomédecine , vol.33 , pp. 82-86
    • Maret, A.1    Salvayre, R.2    Nègre, A.3
  • 9
    • 0019861753 scopus 로고
    • Isoenzymes of membrane-bound-beta-glucosidase in Gaucher's disease
    • Yaqoob M., Carroll M. Isoenzymes of membrane-bound-beta-glucosidase in Gaucher's disease. J. Inher. Metab. Dis. 4:1980;11-13
    • (1980) J. Inher. Metab. Dis. , vol.4 , pp. 11-13
    • Yaqoob, M.1    Carroll, M.2
  • 10
    • 0019861753 scopus 로고
    • Genetic heterogeneity of membrane-bound β-glucosidase in Gaucher's disease
    • Carroll M. Genetic heterogeneity of membrane-bound β-glucosidase in Gaucher's disease. J. Inherit. Metab. Dis. 4:1981;11-13
    • (1981) J. Inherit. Metab. Dis. , vol.4 , pp. 11-13
    • Carroll, M.1
  • 11
    • 0020018849 scopus 로고
    • Multiple forms of human skin fibroblasts beta-glucosidase and activation by fibroblasts monosialoglycosphingolipids
    • Saito M., Mueller O.T., Rosenberg A. Multiple forms of human skin fibroblasts beta-glucosidase and activation by fibroblasts monosialoglycosphingolipids. Prog. Clin. Biol. Res. 95:1982;385-403
    • (1982) Prog. Clin. Biol. Res. , vol.95 , pp. 385-403
    • Saito, M.1    Mueller, O.T.2    Rosenberg, A.3
  • 12
    • 0017886681 scopus 로고
    • Properties of β-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease
    • Turner B.M., Hirschhorn K. Properties of β-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease. Am. J. Hum. Genet. 30:1978;346-358
    • (1978) Am. J. Hum. Genet. , vol.30 , pp. 346-358
    • Turner, B.M.1    Hirschhorn, K.2
  • 13
    • 2042491621 scopus 로고
    • β-Glucosidase isoenzymes in Epstein-Barr virus transformed lymphoid cell lines from normal subjects and patients with type 1 Gaucher disease
    • Maret A., Salvayre R., Négre A., Douste-Blazy L. β-Glucosidase isoenzymes in Epstein-Barr virus transformed lymphoid cell lines from normal subjects and patients with type 1 Gaucher disease. Enzyme. 30:1978;346-358
    • (1978) Enzyme , vol.30 , pp. 346-358
    • Maret, A.1    Salvayre, R.2    Négre, A.3    Douste-Blazy, L.4
  • 14
    • 0017174536 scopus 로고
    • Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate
    • Peters S.P., Coyle P., Glew R.H. Differentiation of beta- glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate. Arch. Biochem. Biophys. 175:1976;569-571
    • (1976) Arch. Biochem. Biophys. , vol.175 , pp. 569-571
    • Peters, S.P.1    Coyle, P.2    Glew, R.H.3
  • 15
    • 77049309786 scopus 로고
    • Studies on the fibrinogen, dextran, and phytohemagglutinin methods of isolating leukocytes
    • Skoog W.A., Beck W.S. Studies on the fibrinogen, dextran, and phytohemagglutinin methods of isolating leukocytes. Blood. 11:1956;436-454
    • (1956) Blood , vol.11 , pp. 436-454
    • Skoog, W.A.1    Beck, W.S.2
  • 16
    • 0033897677 scopus 로고    scopus 로고
    • Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: Technical recommendations
    • Coelho J.C., Giugliani R. Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations. Genet. Mol. Biol. 23:2000;269-271
    • (2000) Genet. Mol. Biol. , vol.23 , pp. 269-271
    • Coelho, J.C.1    Giugliani, R.2
  • 17
    • 71849104860 scopus 로고
    • Protein measurement with the Folin phenol reagent
    • Lowry O.H., Rosebrough N.J., Farr A.L., et al. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193:1951;265-275
    • (1951) J. Biol. Chem. , vol.193 , pp. 265-275
    • Lowry, O.H.1    Rosebrough, N.J.2    Farr, A.L.3
  • 18
    • 33751330608 scopus 로고
    • The determination of enzyme dissociation constants
    • Lineweaver H., Burk D. The determination of enzyme dissociation constants. J. Am. Chem. Soc. 56:1934;658-666
    • (1934) J. Am. Chem. Soc. , vol.56 , pp. 658-666
    • Lineweaver, H.1    Burk, D.2
  • 19
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
    • Hollak C.E.M., Weely V.S., Oers V.M.H.J., et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 93:1994;1288-1292
    • (1994) J. Clin. Invest. , vol.93 , pp. 1288-1292
    • Hollak, C.E.M.1    Weely, V.S.2    Oers, V.M.H.J.3
  • 20
    • 0030796039 scopus 로고    scopus 로고
    • Plasma chitotriosidase activity patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase
    • Young E., Chatterton A., Vellodi A., et al. Plasma chitotriosidase activity patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. J. Inherit. Metab. Dis. 20:1997;595-602
    • (1997) J. Inherit. Metab. Dis. , vol.20 , pp. 595-602
    • Young, E.1    Chatterton, A.2    Vellodi, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.