Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease.

@article{Pereira2013InvariantNK,
  title={Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease.},
  author={Catia Sofia Pereira and Olga Azevedo and Maicon Maia and Ana Carolina Fialho Dias and Clara S{\'a}-Miranda and M Fatima Macedo},
  journal={Molecular genetics and metabolism},
  year={2013},
  volume={108 4},
  pages={241-8}
}
Fabry disease is a lysosomal storage disease belonging to the group of sphingolipidoses. In Fabry disease there is accumulation of mainly globotriaosylceramide due to deficiency of the lysosomal enzyme α-galactosidase A. The lysosome is an important compartment for the activity of invariant natural killer T (iNKT) cells. iNKT cells are lipid-specific T cells that were shown to be important in infection, autoimmunity and tumor surveillance. In several mouse models of lysosomal storage disorders… CONTINUE READING
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