Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.

@article{Awad2015AlteredTL,
  title={Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.},
  author={Ola Awad and Chinmoy Sarkar and Leelamma M. Panicker and Diana E Miller and Xianmin Zeng and Judi A Sgambato and Marta M. Lipinski and Ricardo A. Feldman},
  journal={Human molecular genetics},
  year={2015},
  volume={24 20},
  pages={5775-88}
}
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase). The severe forms of GD are associated with neurodegeneration with either rapid (Type 2) or slow progression (Type 3). Although the neurodegenerative process in GD has been linked to lysosomal dysfunction, the mechanisms involved are largely unknown. To identify the lysosomal alterations in GD neurons and uncover the mechanisms involved, we used induced pluripotent stem… CONTINUE READING
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