Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

@article{Kalatzis2004MolecularPO,
  title={Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.},
  author={Vasiliki Kalatzis and Nathalie N{\'e}vo and St{\'e}phanie Cherqui and Bruno Gasnier and Corinne Antignac},
  journal={Human molecular genetics},
  year={2004},
  volume={13 13},
  pages={
          1361-71
        }
}
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile, juvenile and ocular cystinosis) have been described according to the age of onset and severity of the symptoms. The causative gene, CTNS, encodes a seven transmembrane domain protein, cystinosin, which we recently identified as a H+-driven cystine transporter using an in vitro transport assay. In this study, we explored the relationship between transport activity and… CONTINUE READING
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