ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary Reduced activity of β-glucosidase was shown in the cultured skin fibroblasts of four patients with I-cell disease when the enzyme was tested without the use of detergents. In the presence of taurocholate and triton X100 β-glucosidase activity was normal. This suggested a deficiency of a β-glucosidase-activating factor in I-cell fibroblasts rather than of the enzyme itself. The deficiency of β-glucosidase activity was corrected to some extent by mixing cell lysates, and more effectively by cocultivation and fusion of I-cell disease and Gaucher fibroblasts. These results present evidence for the presence of a β-glucosidase-activating factor in normal and Gaucher fibroblasts. In fibroblasts of patients with I-cell disease this activator is probably deficient, as is the case for most lysosomal enzymes.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00295605
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