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    Stephanie Cherqui

    TitleAssociate Professor In Residence
    SchoolUniversity of California, San Diego
    DepartmentPediatrics
    Address9500 Gilman Drive #0734
    CA La Jolla 92093
    Phone858-822-1023
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      Collapse Research 
      Collapse Research Activities and Funding
      Molecular and Cellular Mechanisms of the Lysosomal Storage Disease Cystinosis
      NIH/NIDDK R01DK110162Aug 9, 2017 - Apr 30, 2020
      Role: Co-Principal Investigator
      Hematopoietic stem cell-based therapy for Friedrich Ataxia
      NIH/NINDS R21NS090066Aug 15, 2014 - Jul 31, 2016
      Role: Principal Investigator
      Toxicology studies for gene-modified stem cell transplantation for cystinosis
      NIH/NIDDK R01DK099338Aug 6, 2013 - May 31, 2015
      Role: Principal Investigator
      Kidney-targeted gene delivery for cystinosis
      NIH/NIDDK R21DK090548Sep 1, 2011 - Aug 31, 2013
      Role: Principal Investigator
      Lentiviral-transduced hematopoictic stem cell transplantation for cystinosis
      NIH/NIDDK R01DK090058Jan 1, 2011 - Jan 31, 2020
      Role: Principal Investigator

      Collapse Bibliographic 
      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
      List All   |   Timeline
      1. Zhang J, Johnson JL, He J, Napolitano G, Ramadass M, Rocca C, Kiosses WB, Bucci C, Xin Q, Gavathiotis E, Cuervo AM, Cherqui S, Catz SD. Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. J Biol Chem. 2017 Jun 23; 292(25):10328-10346. PMID: 28465352.
        View in: PubMed
      2. Cherqui S, Courtoy PJ. The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat Rev Nephrol. 2016 Dec 19. PMID: 27990015.
        View in: PubMed
      3. Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ. Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71. PMID: 26812160; PMCID: PMC4816724 [Available on 04/01/17].
      4. Rocca CJ, Kreymerman A, Ur SN, Frizzi KE, Naphade S, Lau A, Tran T, Calcutt NA, Goldberg JL, Cherqui S. Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation. Invest Ophthalmol Vis Sci. 2015 Nov; 56(12):7214-23. PMID: 26540660; PMCID: PMC4640476.
      5. Cheung WW, Cherqui S, Ding W, Esparza M, Zhou P, Shao J, Lieber RL, Mak RH. Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. J Cachexia Sarcopenia Muscle. 2016 May; 7(2):152-64. PMID: 27493869; PMCID: PMC4864942.
      6. Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ. 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. Endocrinology. 2015 Jun; 156(6):2349-64. PMID: 25811319; PMCID: PMC4430621.
      7. Napolitano G, Johnson JL, He J, Rocca CJ, Monfregola J, Pestonjamasp K, Cherqui S, Catz SD. Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. EMBO Mol Med. 2015 Feb; 7(2):158-74. PMID: 25586965; PMCID: PMC4328646.
      8. Naphade S, Sharma J, Gaide Chevronnay HP, Shook MA, Yeagy BA, Rocca CJ, Ur SN, Lau AJ, Courtoy PJ, Cherqui S. Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes. Stem Cells. 2015 Jan; 33(1):301-9. PMID: 25186209; PMCID: PMC4270893.
      9. Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014 Sep; 29 Suppl 4:iv87-94. PMID: 25165189; PMCID: PMC4158338.
      10. Rocca CJ, Ur SN, Harrison F, Cherqui S. rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study. Gene Ther. 2014 Jun; 21(6):618-28. PMID: 24784447; PMCID: PMC4047163.
      11. Prencipe G, Caiello I, Cherqui S, Whisenant T, Petrini S, Emma F, De Benedetti F. Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis. J Am Soc Nephrol. 2014 Jun; 25(6):1163-9. PMID: 24525029; PMCID: PMC4033370.
      12. Cherqui S. Is genetic rescue of cystinosis an achievable treatment goal? Nephrol Dial Transplant. 2014 Mar; 29(3):522-8. PMID: 23861466; PMCID: PMC3938296.
      13. Johnson JL, Napolitano G, Monfregola J, Rocca CJ, Cherqui S, Catz SD. Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis. Mol Cell Biol. 2013 Aug; 33(15):2950-62. PMID: 23716592; PMCID: PMC3719680.
      14. Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol Ther. 2013 Feb; 21(2):433-44. PMID: 23089735; PMCID: PMC3594011.
      15. Cherqui S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 2012 Jan; 81(2):127-9. PMID: 22205430; PMCID: PMC3386783.
      16. Taniguchi N, Caramés B, Hsu E, Cherqui S, Kawakami Y, Lotz M. Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation. J Biol Chem. 2011 Dec 02; 286(48):41489-98. PMID: 21890638; PMCID: PMC3308860.
      17. Simpson J, Nien CJ, Flynn K, Jester B, Cherqui S, Jester J. Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis. 2011; 17:2212-20. PMID: 21897743; PMCID: PMC3164685.
      18. Yeagy BA, Cherqui S. Kidney repair and stem cells: a complex and controversial process. Pediatr Nephrol. 2011 Sep; 26(9):1427-34. PMID: 21336814.
        View in: PubMed
      19. Yeagy BA, Harrison F, Gubler MC, Koziol JA, Salomon DR, Cherqui S. Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. Kidney Int. 2011 Jun; 79(11):1198-206. PMID: 21248718.
        View in: PubMed
      20. Syres K, Harrison F, Tadlock M, Jester JV, Simpson J, Roy S, Salomon DR, Cherqui S. Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood. 2009 Sep 17; 114(12):2542-52. PMID: 19506297.
        View in: PubMed
      21. Cherqui S, Kingdon KM, Thorpe C, Kurian SM, Salomon DR. Lentiviral gene delivery of vMIP-II to transplanted endothelial cells and endothelial progenitors is proangiogenic in vivo. Mol Ther. 2007 Jul; 15(7):1264-72. PMID: 17505479.
        View in: PubMed
      22. Martina Y, Marcucci KT, Cherqui S, Szabo A, Drysdale T, Srinivisan U, Wilson CA, Patience C, Salomon DR. Mice transgenic for a human porcine endogenous retrovirus receptor are susceptible to productive viral infection. J Virol. 2006 Apr; 80(7):3135-46. PMID: 16537582; PMCID: PMC1440412.
      23. Cherqui S, Kurian SM, Schussler O, Hewel JA, Yates JR, Salomon DR. Isolation and angiogenesis by endothelial progenitors in the fetal liver. Stem Cells. 2006 Jan; 24(1):44-54. PMID: 16099996.
        View in: PubMed
      24. Martina Y, Kurian S, Cherqui S, Evanoff G, Wilson C, Salomon DR. Pseudotyping of porcine endogenous retrovirus by xenotropic murine leukemia virus in a pig islet xenotransplantation model. Am J Transplant. 2005 Aug; 5(8):1837-47. PMID: 15996230.
        View in: PubMed
      25. Kalatzis V, Cherqui S, Antignac C, Gasnier B. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J. 2001 Nov 01; 20(21):5940-9. PMID: 11689434; PMCID: PMC125690.
      26. Kalatzis V, Cherqui S, Jean G, Cordier B, Cochat P, Broyer M, Antignac C. Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. J Am Soc Nephrol. 2001 Oct; 12(10):2170-4. PMID: 11562417.
        View in: PubMed
      27. Cherqui S, Kalatzis V, Trugnan G, Antignac C. The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J Biol Chem. 2001 Apr 20; 276(16):13314-21. PMID: 11150305.
        View in: PubMed
      28. Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C. Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics. 2000; 1:2. PMID: 11121245; PMCID: PMC29086.
      29. Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet. 1999 Dec; 8(13):2507-14. PMID: 10556299.
        View in: PubMed
      30. Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am J Hum Genet. 1999 Aug; 65(2):353-9. PMID: 10417278; PMCID: PMC1377934.
      31. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998 Apr; 18(4):319-24. PMID: 9537412.
        View in: PubMed