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Forms of Glucocerebrosidase Present in Tissues and Urine

  • J. M. F. G. Aerts
  • W. E. Donker-Koopman
  • M. Koot
  • E. M. Brouwer-Kelder
  • G. J. Murray
  • J. A. Barranger
  • J. M. Tager
  • A. W. Schram
Part of the NATO ASI Series book series (NSSA, volume 116)

Abstract

Gaucher disease is a lysosomal storage disease that is characterized by accumulation of the glycosphingolipid glucocerebroside in lysosomes of cells of the reticuloendothelial system, particularly macrophages1. The metabolic basis of Gaucher disease is a deficiency of glucocerebrosidase, which catalyses the hydrolysis of glucocerebroside to glucose and ceramide2,3. Spleen is the organ that is primarily affected by storage of glucocerebroside. The β-glucosidase activities in human urine and tissues, particularly spleen, from control subjects and patients with different clinical phenotypes of Gaucher disease have been examined using a combination of biochemical and immunological methods. The results of the study are summarised in this paper.

Keywords

Sodium Dodecyl Sulphate Gauche Disease High Molecular Mass Lysosomal Storage Disease Glucosidase Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1986

Authors and Affiliations

  • J. M. F. G. Aerts
    • 1
  • W. E. Donker-Koopman
    • 1
  • M. Koot
    • 1
  • E. M. Brouwer-Kelder
    • 1
  • G. J. Murray
    • 2
  • J. A. Barranger
    • 2
  • J. M. Tager
    • 1
  • A. W. Schram
    • 1
  1. 1.Laboratory of BiochemistryUniversity of AmsterdamAmsterdamThe Netherlands
  2. 2.Clinical Investigations and Therapeutics Section and Molecular and Medical Genetics Section, Developmental and Metabolic Neurology BranchNational Institute of Neurological and Communicative Disorders and Stroke, National Institutes of HealthBethesdaUSA

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