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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