Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

@article{Liou2006AnalysesOV,
  title={Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.},
  author={Benjamin Liou and Andrzej Kazimierczuk and Min Zhang and C. Ronald Scott and Rashmi S Hegde and Gregory A. Grabowski},
  journal={The Journal of biological chemistry},
  year={2006},
  volume={281 7},
  pages={4242-53}
}
Acid beta-glucosidase (GCase) is a 497-amino acid, membrane-associated lysosomal exo-beta-glucosidase whose defective activity leads to the Gaucher disease phenotypes. To move toward a structure/function map for disease mutations, 52 selected single amino acid substitutions were introduced into GCase, expressed in an insect cell system, purified, and characterized for basic kinetic, stability, and activator response properties. The variant GCases from Gaucher disease patients and selected… CONTINUE READING