Altered status of glutathione and its metabolites in cystinotic cells.

  title={Altered status of glutathione and its metabolites in cystinotic cells.},
  author={Elena Levtchenko and Adriana de Graaf-Hess and Martijn J Wilmer and Lambertus van den Heuvel and Leo Monnens and Henk J. Blom},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  volume={20 9},
BACKGROUND Cystinosis is an autosomal recessive disorder, caused by mutations of the lysosomal cystine carrier cystinosin, encoded by the CTNS gene (17p13). The concomitant intralysosomal cystine accumulation leads to multi-organ damage, with kidneys being the first affected. Altered mitochondrial oxidative phosphorylation has been demonstrated in animal proximal tubules loaded with cystine dimethyl ester, mimicking cystine accumulation in cystinosis, but has not been confirmed in cells of… CONTINUE READING
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