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  • Title: Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase.
    Author: Carroll M.
    Journal: J Inherit Metab Dis; 1985; 8(1):33-7. PubMed ID: 3921758.
    Abstract:
    'Acid' beta-glucosidase of human spleen, from either normal controls or patients with type 1 (adult) Gaucher disease, was incorporated into phosphatidylcholine liposomes. The non-incorporated (soluble) Gaucher-enzyme had a higher apparent molecular weight than had the corresponding control. Liposomal 'acid' beta-glucosidase prepared from Gaucher-spleen was more thermostable than was the corresponding normal enzyme; it was also stimulated by acidic lipids to a much lesser extent. The results suggest that the genetic mutation in type 1 (adult) Gaucher disease has multiple effects on the glycoprotein form of 'acid' beta-glucosidase.
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