Article
Renal phenotype of the cystinosis mouse model is dependent upon genetic background.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2010
Nevo Nathalie, Chol Marie, Bailleux Anne, Kalatzis Vasiliki, Morisset Ludivine, Devuyst Olivier, Gubler Marie-Claire, Antignac Corinne
Abstract excerpt
BACKGROUND: Cystinosis is caused by mutations in CTNS that encodes cystinosin, the lysosomal cystine transporter. The most severe and frequent form is characterized by a proximal tubulopathy that appears around 6 to 12 months of age. In the absence of treatment, end-stage renal disease is reached by 10 years. Ctns(-/-) mice of a mixed 129Sv x C57BL/6 genetic background show elevated renal cystine levels; however,...
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