Skip to main content
SpringerLink
Log in

Glucocerebrosidase, a Membrane-Associated Lysosomal Enzyme Deficient in Gaucher Disease

  • Chapter
Book cover Cells, Membranes, and Disease, Including Renal

Part of the book series: Methodological Surveys in Biochemistry and Analysis ((MSBA,volume 17))

  • 102 Accesses

Abstract

Lysosomal storage diseases are characterized by a-massive intralysosomal accumulation of undegraded material, causing dysfunction of the cells involved [1]. The storage can have different causes, viz. (1)a generalized deficiency of one or more enzymes in the lysosomes, (2) deficiency of a cofactor required for the stability of one or more enzymes, or (3) deficiency of a cofactor required for expression of activity in vivo [2–5].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Stanbury, J.B., Wijngaarden, J.B., Frederickson, D.S., Goldstein, J.L. & Brown, M.S., eds. (1983) The Metabolic Basis of Inherited Diseases, McGraw-Hill, 1862 pp.

    Google Scholar 

  2. Von Figura, K. & Hasilik, A. (1984) Trends Biochem. Sci. 9, 29–31.

    Article  Google Scholar 

  3. Tager, J.M. (1985) Trends Biochem. Sci. 10, 324–326.

    Article  CAS  Google Scholar 

  4. Tager, J.M., Jonsson, L.M.V., Aerts, J.M.F.G., Oude Elferink, R.P.J., Schram, A.W., Erikson, A.H. & Barranger, J.A. (1984) Biochem. Soc. Trans. 12, 902–905.

    PubMed  CAS  Google Scholar 

  5. Kornfeld, S. (1986) J. Clin. Invest. 77, 1–6.

    Article  PubMed  CAS  Google Scholar 

  6. Brady, R.O. & Barranger, J.A. (1983) in The Metabolic Basis of Inherited Diseases, as for 1., pp.842–856.

    Google Scholar 

  7. Brady, R.O., Kanfer, J.N. & Shapiro, D. (1965) J. Biol. Chem. 240, 39–43.

    PubMed  CAS  Google Scholar 

  8. Patrick, A.D. (1965) Biochem. J. 97, 17c–17d.

    Google Scholar 

  9. Strasberg, P.M. & Lowden, J.A. (1982) Canad. J. Biochem. 60, 1025–1030.

    Article  CAS  Google Scholar 

  10. Grabowski, G.A. & Dagan, A. (1984) Anal. Biochem. 141, 267–279.

    Article  PubMed  CAS  Google Scholar 

  11. Murray, G.J., Youle, R.J., Gandy, S.E., Zirzow, G.G. & Barranger, J.A. (1985) Anal. Biochem. 147, 301–310.

    Article  PubMed  CAS  Google Scholar 

  12. Chaoy, F.Y.N. (1985) Anal. Biochem. 156, 515–520.

    Article  Google Scholar 

  13. Furbish, F.S., Blair, H.E., Shiloach, J., Pentchev, P.G. & Brady, R.O. (1977) Proc. Nat. Acad. Sci. 74, 3560–3563.

    Article  PubMed  CAS  Google Scholar 

  14. Aerts, J.M.F.G., Donker-Koopman, W.E., Murray, G.J., Barranger, J.A., Tager, J.M. & Schram, A.W. (1986) Anal. Biochem. 154, 655–663.

    Article  PubMed  CAS  Google Scholar 

  15. Salvayre, R., Maret, A., Negre, A. & Douste-Blazy, L. (1982) in Gaucher Disease, a Century of Delineation and Research (Desnick, R.J., Gatt, S. & Grabowski, eds.), Liss, New York, pp. 443–452.

    Google Scholar 

  16. Tsuji, S., Choudary, P.V., Martin, B.M., Winfield, S., Barranger, J.A. & Ginns, E.R. (1986) J. Biol. Chem. 261, 505–513.

    Google Scholar 

  17. Takasaki, S., Murray, G.J., Furbish, F.S., Brady, R.O., Barranger, J.A. & Kobota, A. (1984) J. Biol. Chem. 259, 10112–10117.

    PubMed  CAS  Google Scholar 

  18. Tager, J.M., Aerts, J.M.F.G., Jonsson, L.M.V., Murray, G.J., von Weely, S., Styrland, A., Ginns, E.I., Reuser, A.J.J., Schram, A.W. & Barranger, J.A. (1987) in Enzymes of Lipid Metabolism (Freysz, L., Dreyfus, H., Massarelli, R. & Gatt, S., eds.), Plenum, New York, pp. 735–745.

    Google Scholar 

  19. Maret, A., Salvayre, R., Negre, A. & Douste-Blazy, L. (1981) Eur. J. Biochem. 115, 455–461.

    Article  PubMed  CAS  Google Scholar 

  20. Maret, A., Salvayre, R., Negre, A. & Douste-Blazy, L.(1983) Eur. J. Biochem. 133, 283–287.

    Article  PubMed  CAS  Google Scholar 

  21. Aerts, J.M.F.G., Donker-Koopman, W.E. van der Vliet, M.K., Jonsson, L.M.V., Ginns, E.I., Murray, G.J., Barranger, J.A., Tager, J.M., Schram, A.W. (1985) Eur. J. Biochem. 150, 565–574.

    Article  PubMed  CAS  Google Scholar 

  22. Coyle, P.J., Chiao, Y.B., Glew, R.H. & Labow, R.E. (1981) J. Biol. Chem. 256, 13004–13113.

    PubMed  Google Scholar 

  23. Peters, S.P., Coyle, P.J. & Glew, R.H. (1976) Arch. Biochem. Biophys. 175, 569–582.

    Article  PubMed  CAS  Google Scholar 

  24. Strasber, P.M. & Lowden, J.A. (1982) Clin. Chim. Acta 118, 9–20.

    Article  Google Scholar 

  25. Basu, A., Prence, E., Garrett, K., Glew, R.H. & Ellingson, J.S. (1985) Arch. Biochem. Biophys. 243, 28–34.

    Article  PubMed  CAS  Google Scholar 

  26. Ho, M.W. & O’Brien, J.S. (1971) Proc. Nat. Acad. Sci. 68, 2813–2819.

    Article  Google Scholar 

  27. Aerts, J.M.F.G., Donker-Koopman, W.E., van Laar, C., Brul, S., Murray, G.J., Wenger, D.A., Barranger, J.A., Tager, J.M. & Schram, A.W. (1987) Eur. J. Biochem., 163, 583–589.

    Article  PubMed  CAS  Google Scholar 

  28. Prence, E., Chakravorti, S., Basu, A., Clark, L.S., Glew, R.H. & Chambers, J.A. (1985) Arch. Biochem. Biophys. 236, 98–109.

    Article  PubMed  CAS  Google Scholar 

  29. Aerts, J.M.F.G., Donker-Koopman, W.E., Koot, M., Barranger, J.A., Tager, J.M. & Schram, A.W. (1986) Clin. Chim. Acta 158, 155–164.

    Article  PubMed  CAS  Google Scholar 

  30. Oude Elferink, R.P.J., Brouwe-Kelder, E.M., Surya, I., Strijland, A., Kroos, M., Reuser, J.J.A. & Tager, J.M. (1984) Eur. J. Biochem. 139, 489–495.

    Article  PubMed  CAS  Google Scholar 

  31. Aerts, J.M.F.G., Donker-Koopman, W.E., Koot, M., Murray, G.J., Barranger, J.A., Tager, J.M. & Schram, A.W. (1986) Biochim. Biophys. Acta 863, 63–70.

    Article  PubMed  CAS  Google Scholar 

  32. Pentchev, P.G., Brady, R.O., Hibbert, S.A., Gal, A.E. & Shapiro, D. (1973) J. Biol. Chem. 218, 5256–5261.

    Google Scholar 

  33. Dale, V.L., Villacorte, D.G. & Beutler, E. (1976) Biochem. Biophys. Res. Comm. 71, 1048–1053.

    Article  PubMed  CAS  Google Scholar 

  34. Blonder, E., Klibansky, C. & de Vries, A. (1976) Biochim. Biophys. Acta 431, 45–53.

    PubMed  CAS  Google Scholar 

  35. Dale, G.L. & Beutler, E. (1977) Proc. Nat. Acad. Sci. 73, 4672–4674.

    Article  Google Scholar 

  36. Radin, N.S. (1984) in Molecular Basis of Lysosomal Storage Disorders (Barranger, J.A. & Brady, R.O., eds.), Academic Press, London, pp. 93–112.

    Google Scholar 

  37. Christomanou, H., Aignesberger, A. & Linke, R.P. (1986) Biol. Chem. Hoppe-Seyler 367, 879–890.

    Article  PubMed  CAS  Google Scholar 

  38. Hasilik, A. & Neufeld, E.G. (1980) J. Biol. Chem. 255, 4937–4945.

    PubMed  CAS  Google Scholar 

  39. Kornfeld, R. & Kornfeld, S. (1985) Annu. Rev. Biochem. 54, 631–644.

    Article  PubMed  CAS  Google Scholar 

  40. Von Figura, K. & Hasilik, A. (1986) Annu. Rev. Biochem. 55, 167–193.

    Article  Google Scholar 

  41. Erickson, A.H., Ginns, E.I. & Barranger, J.A. (1985) J. Biol. Chem. 260, 14319–14324.

    PubMed  CAS  Google Scholar 

  42. Jonsson, L.M.V., Murray, G.J., Sorrell, S.H., Strijland, A., Aerts, J.M.F.G., Ginns, E.I., Barranger, J.A., Tager, J.M. & Schram, A.W. (1987) Eur. J. Biochem., in press.

    Google Scholar 

  43. Sly, W.S. & Fischer, H.D. (1982) J. Cell Biochem. 18, 67–85.

    Article  PubMed  CAS  Google Scholar 

  44. Gonzalez-Noriega, A., Grubb, H., Talked, V. & Sly, W.S. (1980) J. Cell Biol. 85, 839–852.

    Article  PubMed  CAS  Google Scholar 

  45. Van Dongen, J.M., Willemsen, R., Ginns, E.I., Sips, H.J., Tager, J.M., Barranger, J.A. & Reuser, A.J.J. (1985) Eur. J. Cell Biol. 39, 179–189.

    PubMed  Google Scholar 

  46. Leroy, J., Ho, M.W., MacBrinn, M.C., Zehlke, K., Jakob, J. & O’Brien, J.S. (1972) Pediat. Res. 6, 752–757.

    Article  PubMed  CAS  Google Scholar 

  47. Hickman, S. & Neufeld, E.F. (1972) Biochem. Biophys. Res. Comm. 49, 992–999.

    Article  PubMed  CAS  Google Scholar 

  48. Fujibayashi, Y. & Wenger, D.A. (1986) J. Biol. Chem. 261, 15339–15343.

    PubMed  CAS  Google Scholar 

  49. Aerts, J.M.F.G., Brul, S., Donker-Koopman, W.E. von Weely, S., Murray, G.J., Barranger, J.A., Tager, J.M. & Schram, A.W. (1986) Biochem. Biophys. Res. Comm. 141, 452–458.

    Article  PubMed  CAS  Google Scholar 

  50. Fuhrmann, U., Bause, E. & Ploegh, H. (1985) Biochim. Biophys. Acta 825, 95–110.

    PubMed  CAS  Google Scholar 

  51. Schwarz, R.T. & Datema, R. (1984) Trends Biochem. Sci. 4, 32–34.

    Article  Google Scholar 

  52. Trimble, R.B. & Maley, F. (1984) Anal. Biochem. 141, 515–522.

    Article  PubMed  CAS  Google Scholar 

  53. Overdijk, B., Beem, E.P., van Steijn, G.J., Trippelvitz, L.A.W., Lisman, J.J.W., Paz Perente, J., Cardon, P., Leroy, Y., Fournet, B., van Halbeek, H., Mutsaers, H.G.M. & Vliegenthart, J.F.G. (1985) Biochem. J. 232, 637–641.

    PubMed  CAS  Google Scholar 

  54. Ginns, E.I., Brady, R.O., Pirucello, S., Moore, C., Sorrell, S., Furbish, F.S., Murray, G.J., Tager, J.M. & Barranger, J.A. (1982) Proc. Nat. Acad. Sci. 79, 5607–5610.

    Article  PubMed  CAS  Google Scholar 

  55. Willemsen, R., Van Dengen, J.M., Ginns, E.I. Sips, H.J., Schram, A.W., Tager, J.M., Barranger, J.A. & Reuser, A.J.J. (1987)J. Neurol. 234, 44–51.

    Article  PubMed  CAS  Google Scholar 

  56. Rome, L.H., Garvin, A.J., Allietta, M.M. & Neufeld, E.F. (1979) Cell 17, 143–153.

    Article  PubMed  CAS  Google Scholar 

  57. Oude Elferink, R.P.J., Van Doorn-van Wakeren, J., Strijland, A., Reuser, A.J.J. & Tager, J.M. (1985) Eur. J. Biochem 153, 55–63.

    Article  PubMed  CAS  Google Scholar 

  58. Jadot, M., Colmant, C., Wattiaux-De Coninck, S. & Wattiaux, R. (1984) Biochem. J. 219, 965–970.

    PubMed  CAS  Google Scholar 

  59. Wanders, R.J.A., Kos, M., Roest, B. Meijer, A.J., Schrakamp, G., Heymans, H.S.A., Tegegelaers, W.H.H., van den Bosch, H., Schutgens, R.B.H. & Tager, J.M. (1984) Biochem. Biophys. Res. Comm. 123, 1054–1061.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Laboratory of Biochemistry, University of Amsterdam, P.O. Box 20151, 1000 HD, Amsterdam, The Netherlands

    A. W. Schram, J. M. F. G. Aerts, S. van Weely & J. M. Tager

  2. Division of Human Genetics Children’s Hospital of Los Angeles, University of Southern California, 4650 Sunset Boulevard, 90054, Los Angeles, CA, USA

    J. A. Barranger

Authors
  1. A. W. Schram
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. M. F. G. Aerts
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S. van Weely
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. A. Barranger
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. M. Tager
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Guildford Academic Associates, 72 The Chase, GU2 5UL, Guildford, UK

    Eric Reid

  2. University of Cambridge, Cambridge, UK

    G. M. W. Cook  & J. P. Luzio  & 

Rights and permissions

Reprints and permissions

Copyright information

© 1987 Plenum Press, New York

About this chapter

Cite this chapter

Schram, A.W., Aerts, J.M.F.G., van Weely, S., Barranger, J.A., Tager, J.M. (1987). Glucocerebrosidase, a Membrane-Associated Lysosomal Enzyme Deficient in Gaucher Disease. In: Reid, E., Cook, G.M.W., Luzio, J.P. (eds) Cells, Membranes, and Disease, Including Renal. Methodological Surveys in Biochemistry and Analysis, vol 17. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-1283-3_11

Download citation

  • DOI: https://doi.org/10.1007/978-1-4684-1283-3_11

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-1285-7

  • Online ISBN: 978-1-4684-1283-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation