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 für Gastroenterologie · 2008 · Heft 01
Bibliografische Angaben
Zusammenfassung
Background and aims: 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. Methods: Vector construction for Gba2 -/- generation, ES cell transformation, screening and blastocyst injections were carried out according to standard protocols. GBA2 protein expression was determined by immunoblot and immunof…