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Stephanie Cherqui

Title(s)Associate Professor In Residence, Pediatrics
SchoolHealth Sciences
Phone858-822-1023
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    Collapse Research 
    Collapse Research Activities and Funding
    Hematopoietic Stem Cell Gene Therapy for Friedreich's ataxia
    NIH/NINDS R01NS108965Sep 1, 2018 - Jun 30, 2023
    Role: Principal Investigator
    Chaperone-mediated autophagy in corneal cystinosis
    NIH/NEI R21EY028642Feb 1, 2018 - Jan 31, 2020
    Role: Co-Principal Investigator
    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

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    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.
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    1. Lobry T, Miller R, Nevo N, Rocca CJ, Zhang J, Catz SD, Moore F, Thomas L, Pouly D, Bailleux A, Guerrera IC, Gubler MC, Cheung WW, Mak RH, Montier T, Antignac C, Cherqui S. Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. Kidney Int. 2019 Mar 06. PMID: 30928021.
      View in: PubMed
    2. Rocca CJ, Cherqui S. Gene Transfer to Mouse Kidney In Vivo. Methods Mol Biol. 2019; 1937:227-234. PMID: 30706400.
      View in: PubMed
    3. Rocca CJ, Cherqui S. Potential use of stem cells as a therapy for cystinosis. Pediatr Nephrol. 2018 May 22. PMID: 29789935.
      View in: PubMed
    4. Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, Smith JLM, Heyser CJ, Cherqui S. Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia. Sci Transl Med. 2017 Oct 25; 9(413). PMID: 29070698.
      View in: PubMed
    5. Ariazi J, Benowitz A, De Biasi V, Den Boer ML, Cherqui S, Cui H, Douillet N, Eugenin EA, Favre D, Goodman S, Gousset K, Hanein D, Israel DI, Kimura S, Kirkpatrick RB, Kuhn N, Jeong C, Lou E, Mailliard R, Maio S, Okafo G, Osswald M, Pasquier J, Polak R, Pradel G, de Rooij B, Schaeffer P, Skeberdis VA, Smith IF, Tanveer A, Volkmann N, Wu Z, Zurzolo C. Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions. Front Mol Neurosci. 2017; 10:333. PMID: 29089870.
      View in: PubMed
    6. 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 06 23; 292(25):10328-10346. PMID: 28465352.
      View in: PubMed
    7. Cherqui S, Courtoy PJ. The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat Rev Nephrol. 2017 Feb; 13(2):115-131. PMID: 27990015.
      View in: PubMed
    8. 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.
      View in: PubMed
    9. 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.
    10. 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 05; 7(2):152-64. PMID: 27493869.
      View in: PubMed
    11. 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.
      View in: PubMed
    12. 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.
    13. 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.
    14. 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.
    15. 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.
      View in: PubMed
    16. 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.
    17. Cherqui S. Is genetic rescue of cystinosis an achievable treatment goal? Nephrol Dial Transplant. 2014 Mar; 29(3):522-8. PMID: 23861466; PMCID: PMC3938296.
    18. 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.
    19. 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.
    20. Cherqui S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 2012 Jan; 81(2):127-9. PMID: 22205430; PMCID: PMC3386783.
    21. 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.
    22. 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.
    23. 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
    24. 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
    25. 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
    26. 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
    27. 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.
      View in: PubMed
    28. 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
    29. 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
    30. 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.
      View in: PubMed
    31. 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
    32. 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
    33. 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.
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    34. 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.
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    35. 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.
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    36. 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.
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