Effective cell and gene therapy in a murine model of Gaucher disease.

  title={Effective cell and gene therapy in a murine model of Gaucher disease.},
  author={Ida Berglin Enquist and Eva Falk Nilsson and Andreas Ooka and J -E Mansson and Karin Olsson and Mats Ehinger and Roscoe O. Brady and Johan C O Richter and Stefan Karlsson},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={103 37},
Gaucher disease (GD) is a lysosomal storage disorder due to an inherited deficiency in the enzyme glucosylceramidase (GCase) that causes hepatosplenomegaly, cytopenias, and bone disease as key clinical symptoms. Previous mouse models with GCase deficiency have been lethal in the perinatal period or viable without displaying the clinical features of GD. We have generated viable mice with characteristic clinical symptoms of type 1 GD by conditionally deleting GCase exons 9-11 upon postnatal… CONTINUE READING