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Items: 42


Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking.

Goodman S, Naphade S, Khan M, Sharma J, Cherqui S.

Sci Rep. 2019 Oct 10;9(1):14529. doi: 10.1038/s41598-019-50971-x.


Hematopoietic stem cell gene therapy for brain metastases using myeloid cell-specific gene promoters.

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.

J Natl Cancer Inst. 2019 Sep 10. pii: djz181. doi: 10.1093/jnci/djz181. [Epub ahead of print]


Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

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.

Kidney Int. 2019 Aug;96(2):350-362. doi: 10.1016/j.kint.2019.01.029. Epub 2019 Mar 6.


Gene Transfer to Mouse Kidney In Vivo.

Rocca CJ, Cherqui S.

Methods Mol Biol. 2019;1937:227-234. doi: 10.1007/978-1-4939-9065-8_14.


Potential use of stem cells as a therapy for cystinosis.

Rocca CJ, Cherqui S.

Pediatr Nephrol. 2019 Jun;34(6):965-973. doi: 10.1007/s00467-018-3974-7. Epub 2018 May 22. Review.


Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions.

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.

Front Mol Neurosci. 2017 Oct 17;10:333. doi: 10.3389/fnmol.2017.00333. eCollection 2017. Review.


Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.

Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, Smith JLM, Heyser CJ, Cherqui S.

Sci Transl Med. 2017 Oct 25;9(413). pii: eaaj2347. doi: 10.1126/scitranslmed.aaj2347.


Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.

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.

J Biol Chem. 2017 Jun 23;292(25):10328-10346. doi: 10.1074/jbc.M116.764076. Epub 2017 May 2.


The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Cherqui S, Courtoy PJ.

Nat Rev Nephrol. 2017 Feb;13(2):115-131. doi: 10.1038/nrneph.2016.182. Epub 2016 Dec 19. Review.


Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis.

Cheung WW, Cherqui S, Ding W, Esparza M, Zhou P, Shao J, Lieber RL, Mak RH.

J Cachexia Sarcopenia Muscle. 2016 May;7(2):152-64. doi: 10.1002/jcsm.12056. Epub 2015 Sep 7.


Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ.

Endocrinology. 2016 Apr;157(4):1363-71. doi: 10.1210/en.2015-1762. Epub 2016 Jan 26.


Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation.

Rocca CJ, Kreymerman A, Ur SN, Frizzi KE, Naphade S, Lau A, Tran T, Calcutt NA, Goldberg JL, Cherqui S.

Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7214-23. doi: 10.1167/iovs.15-17107.


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.

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.

Endocrinology. 2015 Jun;156(6):2349-64. doi: 10.1210/en.2014-1672. Epub 2015 Mar 26.


Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.

Napolitano G, Johnson JL, He J, Rocca CJ, Monfregola J, Pestonjamasp K, Cherqui S, Catz SD.

EMBO Mol Med. 2015 Feb;7(2):158-74. doi: 10.15252/emmm.201404223.


Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes.

Naphade S, Sharma J, Gaide Chevronnay HP, Shook MA, Yeagy BA, Rocca CJ, Ur SN, Lau AJ, Courtoy PJ, Cherqui S.

Stem Cells. 2015 Jan;33(1):301-9. doi: 10.1002/stem.1835.


Nephropathic cystinosis: an international consensus document.

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.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.


rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study.

Rocca CJ, Ur SN, Harrison F, Cherqui S.

Gene Ther. 2014 Jun;21(6):618-28. doi: 10.1038/gt.2014.35. Epub 2014 May 1.


Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, N'Kuli F, Nevo N, Guiot Y, Levtchenko E, Marbaix E, Pierreux CE, Cherqui S, Antignac C, Courtoy PJ.

J Am Soc Nephrol. 2014 Jun;25(6):1256-69. doi: 10.1681/ASN.2013060598. Epub 2014 Feb 13.


Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.

Prencipe G, Caiello I, Cherqui S, Whisenant T, Petrini S, Emma F, De Benedetti F.

J Am Soc Nephrol. 2014 Jun;25(6):1163-9. doi: 10.1681/ASN.2013060653. Epub 2014 Feb 13.


Is genetic rescue of cystinosis an achievable treatment goal?

Cherqui S.

Nephrol Dial Transplant. 2014 Mar;29(3):522-8. doi: 10.1093/ndt/gft270. Epub 2013 Jul 16. Review.


Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.

Johnson JL, Napolitano G, Monfregola J, Rocca CJ, Cherqui S, Catz SD.

Mol Cell Biol. 2013 Aug;33(15):2950-62. doi: 10.1128/MCB.00417-13. Epub 2013 May 28.


Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.

Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S.

Mol Ther. 2013 Feb;21(2):433-44. doi: 10.1038/mt.2012.214. Epub 2012 Oct 23.


Cysteamine therapy: a treatment for cystinosis, not a cure.

Cherqui S.

Kidney Int. 2012 Jan;81(2):127-9. doi: 10.1038/ki.2011.301.


Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.

Simpson J, Nien CJ, Flynn K, Jester B, Cherqui S, Jester J.

Mol Vis. 2011;17:2212-20. Epub 2011 Aug 17.


Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation.

Taniguchi N, Caramés B, Hsu E, Cherqui S, Kawakami Y, Lotz M.

J Biol Chem. 2011 Dec 2;286(48):41489-98. doi: 10.1074/jbc.M111.236984. Epub 2011 Sep 2.


Kidney repair and stem cells: a complex and controversial process.

Yeagy BA, Cherqui S.

Pediatr Nephrol. 2011 Sep;26(9):1427-34. doi: 10.1007/s00467-011-1789-x. Epub 2011 Feb 19. Review.


Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

Yeagy BA, Harrison F, Gubler MC, Koziol JA, Salomon DR, Cherqui S.

Kidney Int. 2011 Jun;79(11):1198-206. doi: 10.1038/ki.2010.537. Epub 2011 Jan 19.


Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

Syres K, Harrison F, Tadlock M, Jester JV, Simpson J, Roy S, Salomon DR, Cherqui S.

Blood. 2009 Sep 17;114(12):2542-52. doi: 10.1182/blood-2009-03-213934. Epub 2009 Jun 8.


Lentiviral gene delivery of vMIP-II to transplanted endothelial cells and endothelial progenitors is proangiogenic in vivo.

Cherqui S, Kingdon KM, Thorpe C, Kurian SM, Salomon DR.

Mol Ther. 2007 Jul;15(7):1264-72. Epub 2007 May 1.


Mice transgenic for a human porcine endogenous retrovirus receptor are susceptible to productive viral infection.

Martina Y, Marcucci KT, Cherqui S, Szabo A, Drysdale T, Srinivisan U, Wilson CA, Patience C, Salomon DR.

J Virol. 2006 Apr;80(7):3135-46. Erratum in: J Virol. 2006 May;80(10):5100.


Isolation and angiogenesis by endothelial progenitors in the fetal liver.

Cherqui S, Kurian SM, Schussler O, Hewel JA, Yates JR 3rd, Salomon DR.

Stem Cells. 2006 Jan;24(1):44-54. Epub 2005 Aug 11.


Pseudotyping of porcine endogenous retrovirus by xenotropic murine leukemia virus in a pig islet xenotransplantation model.

Martina Y, Kurian S, Cherqui S, Evanoff G, Wilson C, Salomon DR.

Am J Transplant. 2005 Aug;5(8):1837-47.


Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines.

Chol M, Nevo N, Cherqui S, Antignac C, Rustin P.

Biochem Biophys Res Commun. 2004 Nov 5;324(1):231-5.


Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C.

Hum Mol Genet. 2004 Jul 1;13(13):1361-71. Epub 2004 May 5.


Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C.

Mol Cell Biol. 2002 Nov;22(21):7622-32.


Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.

Kalatzis V, Cherqui S, Antignac C, Gasnier B.

EMBO J. 2001 Nov 1;20(21):5940-9.


Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

Kalatzis V, Cherqui S, Jean G, Cordier B, Cochat P, Broyer M, Antignac C.

J Am Soc Nephrol. 2001 Oct;12(10):2170-4.


The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.

Cherqui S, Kalatzis V, Trugnan G, Antignac C.

J Biol Chem. 2001 Apr 20;276(16):13314-21. Epub 2001 Jan 9.


Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.

Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C.

BMC Genomics. 2000;1:2. Epub 2000 Dec 6.


Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M.

Hum Mol Genet. 1999 Dec;8(13):2507-14.


Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C.

Am J Hum Genet. 1999 Aug;65(2):353-9.


A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

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.

Nat Genet. 1998 Apr;18(4):319-24.


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