Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase.
'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.
D002462:Cell Membrane / Q000201:enzymology; D003208:Concanavalin A / Q000378:metabolism; D005776:Gaucher Disease / Q000201:enzymology*; D005959:Glucosidases / Q000378:metabolism*; D005960:Glucosides / Q000378:metabolism; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006923:Hymecromone / Q000031:analogs & derivatives / Q000378:metabolism; D007700:Kinetics; D008081:Liposomes / Q000378:metabolism; D008970:Molecular Weight; D010713:Phosphatidylcholines; D012995:Solubility; D013154:Spleen / Q000201:enzymology*; D001617:beta-Glucosidase / Q000378:metabolism*
D005960:Glucosides; D008081:Liposomes; D010713:Phosphatidylcholines; D003208:Concanavalin A; C014110:4-methylumbelliferyl glucoside; D006923:Hymecromone; C013552:2-hexadecanoylamino-4-nitrophenyl-D-glucopyranoside; D005959:Glucosidases; D001617:beta-Glucosidase