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  • Title: Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease.
    Author: Håkansson G, Dreborg S, Lindsten J, Svennerholm L.
    Journal: Clin Genet; 1980 Oct; 18(4):268-73. PubMed ID: 6777099.
    Abstract:
    Fibroblasts from 13 homozygotes and 27 obligate heterozygotes with the Norrbottnian type of Gaucher disease and 17 controls were cultivated and assayed with five beta-glucosidase methods, two with D-[glucose-U-14C] glucosylceramide and three with the artificial substrate 4-methylumbelliferyl-beta-glucoside. Two marker enzymes were assayed on the same cell samples, 4-methylumbelliferyl-beta-galactosidase and N-acetyl-beta-glucosaminidase. The beta-glucosidase activity of cultured fibroblasts, as measured with all five beta-glucosidase methods, was significantly lower (P < 0.001) for Gaucher homozygotes than heterozygotes. There was no overlap between fibroblasts from Gaucher homozygotes and the others with any of the beta-glucosidase methods used. The beta-glucosidase activity was also significantly lower (P < 0.001) for Gaucher heterozygotes than controls. However, none of the five beta-glucosidase assays differentiated between all Gaucher heterozygotes and controls, as several overlaps occurred in each assay.
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