Beta-glucosidase 2 (GBA2) deficiency leads to zonal glucosylceramide accumulation in the liver

Y Yildiz,H Matern,S Matern,S Weber,R Büttner,T Sauerbruch,F Lammert

Zeitschrift Fur Gastroenterologie（2008）

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摘要

The enzyme beta-glucosidase 2 (GBA2) has been purified and characterized from human liver microsomes. GBA2 is highly conserved and ubiquitously present, and was known to hydrolyze bile acid 3-O-glucosides as endogenous compound in the liver. To gain insight into the pathobiological functions of this enzyme and its substrates, we recently generated Gba2 knockout mice.

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关键词

zonal glucosylceramide accumulation,gba2,liver,deficiency,beta-glucosidase

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