Forms of Glucocerebrosidase Present in Tissues and Urine View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1986

AUTHORS

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

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. More... »

PAGES

747-752

Book

TITLE

Enzymes of Lipid Metabolism II

ISBN

978-1-4684-5214-3
978-1-4684-5212-9

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4684-5212-9_89

DOI

http://dx.doi.org/10.1007/978-1-4684-5212-9_89

DIMENSIONS

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