The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

@article{Wilmer2010ThePO,
  title={The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.},
  author={Martijn J Wilmer and Francesco Emma and Elena Levtchenko},
  journal={American journal of physiology. Renal physiology},
  year={2010},
  volume={299 5},
  pages={F905-16}
}
Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic disorders, of which nephropathic cystinosis is the most common. The disease is caused by mutations in the CTNS gene, encoding the lysosomal cystine transporter cystinosin, and is characterized by accumulation of cystine in the lysosomes throughout the body. In the majority of the patients, this leads to generalized proximal tubular dysfunction (also called DeToni-Debré-Fanconi syndrome… CONTINUE READING
34 Citations
148 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 34 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 148 references

Cystinosis: a disorder of lysosomal membrane transport

  • WA Gahl, JG Thoene, JA. Schneider
  • Beaudet AL, Sly WS, and Valle D. New York: McGraw…
  • 2001
Highly Influential
3 Excerpts

Cysteamine treatment in cystinotic proximal tubular cells increases intracellular glutathione without restoring decreased ATP levels (Abstract)

  • EN Levtchenko, MJ Wilmer, LA Kluijtmans, LA Monnens, LP. van den Heuvel
  • J Am Soc Nephrol 20: 283A,
  • 2009
Highly Influential
4 Excerpts

Cystinosis. In: GeneReviews, edited by Pagon RA, Bird TC

  • G Nesterova, WA Gahl
  • Dolan CR, and Stephens K. Seattle, WA: Univ. of…
  • 2010
1 Excerpt

Similar Papers

Loading similar papers…