Stephanie Cherqui

Title(s)Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Hematopoietic Stem Cell Gene Therapy for Friedreich's ataxia
    NIH R01NS108965Sep 1, 2018 - Jun 30, 2023
    Role: Principal Investigator
    Chaperone-mediated autophagy in corneal cystinosis
    NIH R21EY028642Feb 1, 2018 - Jan 31, 2021
    Role: Co-Principal Investigator
    Molecular and Cellular Mechanisms of the Lysosomal Storage Disease Cystinosis
    NIH R01DK110162Aug 9, 2017 - May 30, 2026
    Role: Co-Principal Investigator
    Hematopoietic stem cell-based therapy for Friedrich Ataxia
    NIH R21NS090066Aug 15, 2014 - Jul 31, 2016
    Role: Principal Investigator
    Toxicology studies for gene-modified stem cell transplantation for cystinosis
    NIH R01DK099338Aug 6, 2013 - May 31, 2015
    Role: Principal Investigator
    Kidney-targeted gene delivery for cystinosis
    NIH R21DK090548Sep 1, 2011 - Aug 31, 2013
    Role: Principal Investigator
    Lentiviral-transduced hematopoictic stem cell transplantation for cystinosis
    NIH R01DK090058Jan 1, 2011 - Jan 31, 2021
    Role: Principal Investigator

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    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons. Front Pharmacol. 2024; 15:1323491. Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S. PMID: 38420191; PMCID: PMC10899513.
      View in: PubMed   Mentions:
    2. Rescue of Alzheimer's disease phenotype in a mouse model by transplantation of wild-type hematopoietic stem and progenitor cells. Cell Rep. 2023 08 29; 42(8):112956. Mishra P, Silva A, Sharma J, Nguyen J, Pizzo DP, Hinz D, Sahoo D, Cherqui S. PMID: 37561625; PMCID: PMC10617121.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    3. Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia. Front Genome Ed. 2022; 4:903139. Sivakumar A, Cherqui S. PMID: 35663795; PMCID: PMC9157421.
      View in: PubMed   Mentions: 5  
    4. Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside. Cells. 2021 11 23; 10(12). Cherqui S. PMID: 34943781; PMCID: PMC8699556.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    5. Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model. Mol Genet Metab. 2021 12; 134(4):309-316. Goodman S, Khan M, Sharma J, Li Z, Cano J, Castellanos C, Estrada MV, Gertsman I, Cherqui S. PMID: 34823997; PMCID: PMC8935660.
      View in: PubMed   Mentions: 1     Fields:    Translation:AnimalsCells
    6. DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis. Autophagy. 2022 05; 18(5):1108-1126. Rahman F, Johnson JL, Zhang J, He J, Pestonjamasp K, Cherqui S, Catz SD. PMID: 34643468; PMCID: PMC9196850.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    7. Non-invasive intradermal imaging of cystine crystals in cystinosis. PLoS One. 2021; 16(3):e0247846. Bengali M, Goodman S, Sun X, Dohil MA, Dohil R, Newbury R, Lobry T, Hernandez L, Antignac C, Jain S, Cherqui S. PMID: 33661986; PMCID: PMC7932553.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    8. Hematopoietic Stem Cell Gene Therapy for Brain Metastases Using Myeloid Cell-Specific Gene Promoters. J Natl Cancer Inst. 2020 06 01; 112(6):617-627. Andreou T, Rippaus N, Wronski K, Williams J, Taggart D, Cherqui S, Sunderland A, Kartika YD, Egnuni T, Brownlie RJ, Mathew RK, Holmen SL, Fife C, Droop A, Lorger M. PMID: 31501884; PMCID: PMC7301153.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    9. CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. Mol Ther Methods Clin Dev. 2020 Jun 12; 17:1026-1036. Rocca CJ, Rainaldi JN, Sharma J, Shi Y, Haquang JH, Luebeck J, Mali P, Cherqui S. PMID: 32462051; PMCID: PMC7240056.
      View in: PubMed   Mentions: 11  
    10. Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. Sci Rep. 2019 10 10; 9(1):14529. Goodman S, Naphade S, Khan M, Sharma J, Cherqui S. PMID: 31601865; PMCID: PMC6787037.
      View in: PubMed   Mentions: 16     Fields:    Translation:AnimalsCells
    11. Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. Kidney Int. 2019 08; 96(2):350-362. 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. PMID: 30928021; PMCID: PMC7269416.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    12. Gene Transfer to Mouse Kidney In Vivo. Methods Mol Biol. 2019; 1937:227-234. Rocca CJ, Cherqui S. PMID: 30706400; PMCID: PMC8020872.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    13. Potential use of stem cells as a therapy for cystinosis. Pediatr Nephrol. 2019 06; 34(6):965-973. Rocca CJ, Cherqui S. PMID: 29789935; PMCID: PMC6250595.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    14. 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). Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, Smith JLM, Heyser CJ, Cherqui S. PMID: 29070698; PMCID: PMC5735830.
      View in: PubMed   Mentions: 34     Fields:    Translation:AnimalsCells
    15. Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions. Front Mol Neurosci. 2017; 10:333. 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. PMID: 29089870; PMCID: PMC5651011.
      View in: PubMed   Mentions: 112  
    16. 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. 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. PMID: 28465352; PMCID: PMC5481548.
      View in: PubMed   Mentions: 36     Fields:    Translation:AnimalsCells
    17. The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat Rev Nephrol. 2017 Feb; 13(2):115-131. Cherqui S, Courtoy PJ. PMID: 27990015; PMCID: PMC5657490.
      View in: PubMed   Mentions: 71     Fields:    Translation:HumansCells
    18. Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71. Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ. PMID: 26812160; PMCID: PMC4816724.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    19. Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation. Invest Ophthalmol Vis Sci. 2015 Nov; 56(12):7214-23. Rocca CJ, Kreymerman A, Ur SN, Frizzi KE, Naphade S, Lau A, Tran T, Calcutt NA, Goldberg JL, Cherqui S. PMID: 26540660; PMCID: PMC4640476.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    20. Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. J Cachexia Sarcopenia Muscle. 2016 05; 7(2):152-64. Cheung WW, Cherqui S, Ding W, Esparza M, Zhou P, Shao J, Lieber RL, Mak RH. PMID: 27493869; PMCID: PMC4864942.
      View in: PubMed   Mentions: 15     Fields:    
    21. 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. 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. PMID: 25811319; PMCID: PMC4430621.
      View in: PubMed   Mentions: 23     Fields:    Translation:AnimalsCells
    22. 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. Napolitano G, Johnson JL, He J, Rocca CJ, Monfregola J, Pestonjamasp K, Cherqui S, Catz SD. PMID: 25586965; PMCID: PMC4328646.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansAnimalsCells
    23. Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes. Stem Cells. 2015 Jan; 33(1):301-9. Naphade S, Sharma J, Gaide Chevronnay HP, Shook MA, Yeagy BA, Rocca CJ, Ur SN, Lau AJ, Courtoy PJ, Cherqui S. PMID: 25186209; PMCID: PMC4270893.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimalsCells
    24. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014 Sep; 29 Suppl 4:iv87-94. 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. PMID: 25165189; PMCID: PMC4158338.
      View in: PubMed   Mentions: 74     Fields:    Translation:Humans
    25. 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. Rocca CJ, Ur SN, Harrison F, Cherqui S. PMID: 24784447; PMCID: PMC4047163.
      View in: PubMed   Mentions: 34     Fields:    Translation:AnimalsCells
    26. Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis. J Am Soc Nephrol. 2014 Jun; 25(6):1163-9. Prencipe G, Caiello I, Cherqui S, Whisenant T, Petrini S, Emma F, De Benedetti F. PMID: 24525029; PMCID: PMC4033370.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimalsCells
    27. Is genetic rescue of cystinosis an achievable treatment goal? Nephrol Dial Transplant. 2014 Mar; 29(3):522-8. Cherqui S. PMID: 23861466; PMCID: PMC3938296.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    28. 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. Johnson JL, Napolitano G, Monfregola J, Rocca CJ, Cherqui S, Catz SD. PMID: 23716592; PMCID: PMC3719680.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    29. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol Ther. 2013 Feb; 21(2):433-44. Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. PMID: 23089735; PMCID: PMC3594011.
      View in: PubMed   Mentions: 43     Fields:    Translation:AnimalsCells
    30. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 2012 Jan; 81(2):127-9. Cherqui S. PMID: 22205430; PMCID: PMC3386783.
      View in: PubMed   Mentions: 41     Fields:    Translation:Animals
    31. Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation. J Biol Chem. 2011 Dec 02; 286(48):41489-41498. Taniguchi N, Caramés B, Hsu E, Cherqui S, Kawakami Y, Lotz M. PMID: 21890638; PMCID: PMC3308860.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    32. Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis. 2011; 17:2212-20. Simpson J, Nien CJ, Flynn K, Jester B, Cherqui S, Jester J. PMID: 21897743; PMCID: PMC3164685.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    33. Kidney repair and stem cells: a complex and controversial process. Pediatr Nephrol. 2011 Sep; 26(9):1427-34. Yeagy BA, Cherqui S. PMID: 21336814.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    34. Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. Kidney Int. 2011 Jun; 79(11):1198-206. Yeagy BA, Harrison F, Gubler MC, Koziol JA, Salomon DR, Cherqui S. PMID: 21248718.
      View in: PubMed   Mentions: 31     Fields:    Translation:AnimalsCells
    35. Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood. 2009 Sep 17; 114(12):2542-52. Syres K, Harrison F, Tadlock M, Jester JV, Simpson J, Roy S, Salomon DR, Cherqui S. PMID: 19506297.
      View in: PubMed   Mentions: 57     Fields:    Translation:AnimalsCells
    36. 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. Cherqui S, Kingdon KM, Thorpe C, Kurian SM, Salomon DR. PMID: 17505479.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    37. Mice transgenic for a human porcine endogenous retrovirus receptor are susceptible to productive viral infection. J Virol. 2006 Apr; 80(7):3135-46. Martina Y, Marcucci KT, Cherqui S, Szabo A, Drysdale T, Srinivisan U, Wilson CA, Patience C, Salomon DR. PMID: 16537582; PMCID: PMC1440412.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    38. Isolation and angiogenesis by endothelial progenitors in the fetal liver. Stem Cells. 2006 Jan; 24(1):44-54. Cherqui S, Kurian SM, Schussler O, Hewel JA, Yates JR, Salomon DR. PMID: 16099996.
      View in: PubMed   Mentions: 13     Fields:    Translation:AnimalsCells
    39. 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. Martina Y, Kurian S, Cherqui S, Evanoff G, Wilson C, Salomon DR. PMID: 15996230.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    40. 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. Cherqui S, Kalatzis V, Trugnan G, Antignac C. PMID: 11150305.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansAnimalsCells
    41. Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics. 2000; 1:2. Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C. PMID: 11121245; PMCID: PMC29086.
      View in: PubMed   Mentions: 7     Fields:    
    42. 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. Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M. PMID: 10556299.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansCells
    43. 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. Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C. PMID: 10417278; PMCID: PMC1377934.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    44. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998 Apr; 18(4):319-24. 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. PMID: 9537412.
      View in: PubMed   Mentions: 210     Fields:    Translation:HumansCells
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