Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.

@article{Hsu2012EquilibrativeNT,
  title={Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.},
  author={Chia-Lin Hsu and Weiyu Lin and Dhaya Seshasayee and Yung-Hsiang Chen and Xiao Ding and Zhonghua Lin and Eric Suto and Zhiyu Huang and Wyne P Lee and Hyunjoo Park and Min Xu and Mei Sun and Linda K. Rangell and Jeff L Lutman and Sheila Ulufatu and Eric G. Stefanich and Cecile M Chalouni and Meredith Sagolla and Lauri Diehl and Paul J. Fielder and Brian Dean and Mercedesz Bal{\'a}zs and Flavius Martin},
  journal={Science},
  year={2012},
  volume={335 6064},
  pages={89-92}
}
Lysosomal storage diseases (LSDs) are a group of heterogeneous disorders caused by defects in lysosomal enzymes or transporters, resulting in accumulation of undegraded macromolecules or metabolites. Macrophage numbers are expanded in several LSDs, leading to histiocytosis of unknown pathophysiology. Here, we found that mice lacking the equilibrative nucleoside transporter 3 (ENT3) developed a spontaneous and progressive macrophage-dominated histiocytosis. In the absence of ENT3, defective… CONTINUE READING
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