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Cystinosis

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  • A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis  Academic Article
  • Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in brittany  Academic Article
  • Cystinosin, the protein defective in cystinosis, is a h+-driven lysosomal cystine transporter  Academic Article
  • Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A  Academic Article
  • Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines  Academic Article
  • Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis  Academic Article
  • Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis  Academic Article
  • Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis  Academic Article
  • Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis  Academic Article
  • Kidney preservation by bone marrow cell transplantation in hereditary nephropathy  Academic Article
  • Molecular characterization of ctns deletions in nephropathic cystinosis: Development of a pcr-based detection assay  Academic Article
  • Molecular pathogenesis of cystinosis: Effect of ctns mutations on the transport activity and subcellular localization of cystinosin  Academic Article
  • Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns(-/-) knockout mouse  Academic Article
  • Severity of phenotype in cystinosis varies with mutations in the ctns gene: Predicted effect on the model of cystinosin  Academic Article
  • Successful treatment of the murine model of cystinosis using bone marrow cell transplantation  Academic Article
  • The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif  Academic Article
  • Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis  Academic Article

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