High β-glucosidase (GBA) activity not attributable to GBA1 and GBA2 in live normal and enzyme-deficient fibroblasts may emphasise the role of additional GBAs.
作者： Klaus Harzer , Yildiz Yildiz
关键词: Enzyme 、 Cytosol 、 Metabolism 、 GBA3 、 β glucosidase 、 Phenotype 、 Chemistry 、 Molecular biology 、 Substrate (chemistry) 、 Glucocerebrosidase
摘要: Beta-glucosidases (GBA) include GBA1, GBA2 and other β-glucosidases (non-GBA1-2). GBA1 is a lysosomal an extra-lysosomal enzyme. GBA1- GBA2-deficient genetic conditions, with different phenotypes, are glucosylceramide (GC; the main GBA substrate) accumulating diseases. To study activity profile of GBA, live fibroblasts were loaded radioactive GC. The GC metabolism was measured in wild-type, GBA1-deficient (Gaucher disease) (Gba2(-/- )mouse) cells. differences found allowed prediction marked proportions GBA2, particularly non-GBA1-2 (probably including GBA3, cytosolic β-glucosidase) for wild-type high proportion suggests important role these enzymes.
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