Novel compounds that reverse the disease phenotype in Type 2 Gaucher disease patient-derived cells.

@article{Childers2019NovelCT,
  title={Novel compounds that reverse the disease phenotype in Type 2 Gaucher disease patient-derived cells.},
  author={W. E. Jun. Childers and Rong Fan and Rogelio Martinez and Dennis J. Colussi and Edward George Melenski and Yu-xiao Liu and John C Gordon and Magid A Abou-Gharbia and Marlene A Jacobson},
  journal={Bioorganic \& medicinal chemistry letters},
  year={2019},
  pages={
          126806
        }
}
Gaucher disease (GD) results from inherited mutations in the lysosomal enzyme β-glucocerobrosidase (GCase). Currently available treatment options for Type 1 GD are not efficacious for treating neuronopathic Type 2 and 3 GD due to their inability to cross the blood-brain barrier. In an effort to identify small molecules which could be optimized for CNS penetration we identified tamoxifen from a high throughput phenotypic screen on Type 2 GD patient-derived fibroblasts which reversed the disease… Expand
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