Acid lability of the mutated glucosylceramide-beta-glucosidase in a lymphoid cell line from type 2 Gaucher disease.

doi:10.1159/000468712

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Article

Acid lability of the mutated glucosylceramide-beta-glucosidase in a lymphoid cell line from type 2 Gaucher disease.

Enzyme - 1 Jan 1990

Maret A, Salvayre R, Troly M, Douste-Blazy L

Abstract excerpt

Lymphoid cell lines from patients with infantile (type-2) and juvenile (type 3) Gaucher disease have been established by Epstein-Barr virus transformation and investigated and compared with the adult phenotype (type 1) with the view to enzymology. The enzymatic defect in glucosylceramide(GlcCer)-...

Topics

Acids
Adult
Cell Line
Enzyme Stability
Gaucher Disease
Glucosylceramidase
Humans
Hydrogen-Ion Concentration
Infant, Newborn
Lymphocytes
Membrane Proteins
Mutation
Phenotype
Temperature
beta-Glucosidase

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