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Department of Pediatrics Department of Pediatrics
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Publications

Selected Recent publications

Mishra P,  Sivakumar A, Johnson A, Pernaci C, Warden AS, El- Hachem LR, Emily Hansen, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal C, and Cherqui S. (2024) Gene editing improves Endoplasmic reticulum-mitochondrial contacts and Unfolded Protein Response in Friedreich's Ataxia iPSC-derived neurons. Frontiers in Pharmacology. 15:1323491. PMID: 38420191 

Mishra P, Silva A, Sharma J, Nguyen J, PizzoDP, Hinz D, sahoo D, Cherqui S. (2023) Rescue of Alzheimer's Disease Phenotype in a Mouse Model by Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells. Cell Reports.42(8):112956. PMID: 37561625

Cherqui S (2023) Cystinosis: From the gene identification to the first gene therapy clinical trial. Med Sci. 39(3):253-261. Review. PMID: 36943122

Rahman F, Johnson JL, Zhang J, He J, Pestonjamasp K, Cherqui S, Catz SD. (2022) DYNC1LI2 regulates localization of the chaperon-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis. Autophagy. 18(5):1108-1126. PMID: 34643468

Sivakumar A and Cherqui S. (2022) Advantages and limitations of gene therapy and gene editing for Friedreich’s ataxia. Frontiers in Genome Editing. Review. 4:903139. PMID: 35663795

Cherqui S. (2021) Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside. Cells, 10(12), 3273. PMID: 34943781 

Goodman S, Khan M, Sharma J, Li Z, Cano J, Castellanos C, Estrada MV, Gertsman I, Cherqui S. (2021) 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. 17:S1096-7192(21)00824-6. PMID: 34823997 

Andreou T, Rippaus N, Wronski K, Williams J, Taggart D, Cherqui S. , Sunderland A, Kartika YD, Egnuni T, Brownlie R, Mathew RK, Holmen SL, Fife C, Droop A, Lorger M. (2020) Hematopoietic stem cell gene therapy for brain metastases using myeloid cell- specific gene promoters. J Natl Cancer Inst. (6):617-627. PMID: 31501884 

Rocca CJ, Rainaldi JN, Sharma J, Shi Y, Haquang JH, Luebeck J, Mali P, Cherqui S. (2020) CRISPR/Cas9 gene editing of hematopoietic stem cells from patients with Friedreich’s ataxia. Mol Ther Methods Clin Dev. 17:1026-1036. PMID: 32462051 

Rocca CJ, Rainaldi JN, Sharma J, Shi Y, Haquang JH, Luebeck J, Mali P, Cherqui S. CRISPR/Cas9 gene editing of hematopoietic stem cells from patients with Friedreich's ataxia. Mol Ther Methods Clin Dev. 2020 [Epub ahead of print]

Goodman S, Naphade S, Khan M, Sharma J, Cherqui S. Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. Sci Rep. 2019 Oct 10;9(1):14529.
PMID: 31601865 

 Lobry T, Miller R, Nevo N, Rocca CJ, Zhang J, Catz SD, Moore F, Thomas L, Pouly D, Bailleux A, Guerrera IC, Gubler MC, Wilson CW, Mak RH, Montier T, Antignac C, Cherqui S. (2019) Interaction between galectin-3 and cystinosin reveals a role of inflammation in kidney pathogenesis in cystinosis. Kidney International. 96(2):350-362. PMID: 30928021  [Featured in: Langman C. (2019) Oh cystinosis: let me count the ways! Kidney International. 96(2):275-277.]

Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, Smith JLM, Heyser CJ,
Cherqui S. (2017) Hematopoietic stem cell transplantation prevents development of Friedreich’s Ataxia in a humanized mouse model. Sci Transl Med. 9(413). PMID: 29070698  | Full Text » 

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. (2017) Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. J Biol Chem. 292(25):10328-10346. PMID: 28465352 

Cherqui S, Courtoy PJ. (2016) The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat Rev Nephrol. 13(2):115-131. Review. PMID: 27990015 

Gaide Chevronnay HP, Jansen V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE,
Cherqui S*, and Courtoy P*. (2016) Hematopoietic stem cell transplantation can normalize thyroid function in a cystinosis mouse model. Endocrinology. 57(4):1363-1371. PMID: 26812160  *co-senior author

Rocca CJ, Kreymerman A, Ur SN, Frizzi KE, Naphade S, Lau AJ, Tran T, Calcutt NA, Goldberg JL,
Cherqui S. (2015) Treatment of inherited eye defects by systemic hematopoietic stem cell transplantation. Invest Ophthalmol Vis Sci. 56(12):7214-7223. PMID: 26540660 

Napolitano G, Johnson JL, He J, Rocca CJ, Monfregola J, Pestonjamasp K, Cherqui S, Catz SD. (2015) Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. EMBO Mol Med. 7(2): 158-174. PMID: 25586965 

Naphade S, Sharma J, Gaide Chevronnay HP, Shook MA, Yeagy BA, Rocca CJ, Ur SN, Lau AJ, Courtoy PJ, Cherqui S. (2015) Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes. Stem Cells. 33(1):301-309. PMID: 25186209 

Rocca CJ, Ur SN, Harrison F, Cherqui S. (2014) rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study. Gene Ther. 21(6):618-628.
PMID: 24784447 

Cherqui S. (2014) Is Genetic Rescue of Cystinosis an Achievable Treatment Goal? Nephrol Dial Transplant. Review. 29(3):522-528. PMID: 23861466 

Johnson JL, Napolitano G, Monfregola J, Rocca CJ, Cherqui S and Catz SD. (2013) 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. 33(15):2950-2962. PMID: 23716592 

Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. (2013) Hematopoietic stem cell gene therapy in the mouse model of cystinosis. Molecular Therapy. Mol Ther. 21(2):433-444. PMID: 23089735 

Cherqui S. (2012) Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Intern. 81(2):127-129. Commentary article. PMID: 22205430 

Simpson J, Nien CJ, Flynn K, Jester B, Cherqui S, Jester J. (2011) Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis. 17:2212-20. PMID: 21897743 

Yeagy BA and Cherqui S. (2011) Kidney repair and stem cells: a complex and controversial process. Pediatr Nephrol. 26(9):1427-1434. Review. PMID: 21336814 

Yeagy BA, Harrison F, Gubler M.C, Koziol JA, Salomon DR, Cherqui S. (2011) Kidney preservation by bone marrow cell transplantation depends on the level of stem cell engraftment in hereditary nephropathy. Kidney Intern. 79(11):1198-1206. Cover photo. PMID: 21248718  [Featured in: Pinkernell K. (2011) Cellular therapies: what is still missing? Kidney International. 79(11):1161-1163.]

Syres K, Harrison F, Tadlock M, Jester J, Simpson J, Roy S, Salomon DR, Cherqui S. (2009) Successful treatment of the mouse model of cystinosis using bone marrow cell transplantation. Blood. 114:2530-2541. Cover photo. PMID: 19506297  [Featured in: Terryn S, Devuyst O, Antignac C. (2010) Cell therapy for cystinosis. Nephrol Dial Transplant. 25(4):1059-1066.]