| human | Q5 |
| P6178 | Dimensions author ID | 01300026150.38 |
| P269 | IdRef ID | 068558341 |
| P213 | ISNI | 0000000357662585 |
| P496 | ORCID iD | 0000-0003-1240-5219 |
| P214 | VIAF ID | 199858861 |
| P69 | educated at | Paris Descartes University | Q1155944 |
| P108 | employer | University of California, San Diego | Q622664 |
| P734 | family name | Cherqui | Q124040153 |
| Cherqui | Q124040153 | ||
| Cherqui | Q124040153 | ||
| P735 | given name | Stephanie | Q1291472 |
| Stephanie | Q1291472 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | female | Q6581072 |
| Q35603385 | A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. |
| Q24322985 | A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis |
| Q27330049 | Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes |
| Q95936035 | CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia |
| Q33954759 | Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. |
| Q36068161 | Cysteamine therapy: a treatment for cystinosis, not a cure |
| Q27937730 | Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter |
| Q46864655 | Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. |
| Q35842175 | Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation. |
| Q91300538 | Gene Transfer to Mouse Kidney In Vivo |
| Q40508227 | Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines |
| Q36753794 | Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model |
| Q90006597 | Hematopoietic stem cell gene therapy for brain metastases using myeloid cell-specific gene promoters |
| Q36673678 | Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis |
| Q21283771 | Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns |
| Q35084396 | Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis |
| Q33660585 | Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis |
| Q64923813 | Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. |
| Q28591791 | Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis |
| Q27023975 | Is genetic rescue of cystinosis an achievable treatment goal? |
| Q60446293 | Isolation and Angiogenesis by Endothelial Progenitors in the Fetal Liver |
| Q46023359 | Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. |
| Q37845214 | Kidney repair and stem cells: a complex and controversial process |
| Q46181399 | Lentiviral gene delivery of vMIP-II to transplanted endothelial cells and endothelial progenitors is proangiogenic in vivo |
| Q90640438 | Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking |
| Q60446290 | Mice Transgenic for a Human Porcine Endogenous Retrovirus Receptor Are Susceptible to Productive Viral Infection |
| Q34545753 | Mice transgenic for a human porcine endogenous retrovirus receptor are susceptible to productive viral infection |
| Q34389935 | Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. |
| Q24338721 | Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin |
| Q36895482 | Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis |
| Q27024508 | Nephropathic cystinosis: an international consensus document |
| Q88779781 | Potential use of stem cells as a therapy for cystinosis |
| Q39219219 | Pseudotyping of porcine endogenous retrovirus by xenotropic murine leukemia virus in a pig islet xenotransplantation model |
| Q28506311 | Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse |
| Q28137732 | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin |
| Q33464105 | Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. |
| Q38781097 | The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives |
| Q24290722 | The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif |
| Q33660575 | Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys |
| Q46169576 | Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia. |
| Q36267895 | Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation |
| Q45723587 | Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions |
| Q30541728 | Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis |
| Q40363311 | rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study |
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