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Gaucher disease (type 1): Physical and kinetic properties of liposomal and soluble ‘acid’ β‐glucosidase
Author(s) -
Carroll M.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805482
Subject(s) - liposome , spleen , enzyme , glycoprotein , biochemistry , disease , chemistry , mutation , medicine , gene
‘Acid’ β‐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) Gaucherenzyme had a higher apparent molecular weight than had the corresponding control. Liposomal ‘acid’ β‐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’ β‐glucosidase.

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