Bile acid beta glucosidase (GBA2) deficiency leads to glucosylceramide accumulation and modulation of cell signalling in liver

Background and aims: A novel microsomal bile acid beta glucosidase (GBA2) has been purified and characterized from human liver. GBA2 is evolutionarily highly conserved, ubiquitously present, and hydrolyzes bile acid 3-O-glucosides as endogenous compounds in liver. To gain insight into the biological function of this enzyme and its substrates, we generated mice deficient in GBA2. Methods: Vector construction for Gba2 -/- generation, ES cell transformation, screening and blastocyst injections were carried out according to standard protocols. In addition, sperm analysis and in vitro fertilization were performed. We…