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Journal Abstract Search

218 related items for PubMed ID: 33975805

  • 21.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 22. Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.
    Bondue T, Berlingerio SP, Siegerist F, Sendino-Garví E, Schindler M, Baelde HJ, Cairoli S, Goffredo BM, Arcolino FO, Dieker J, Janssen MJ, Endlich N, Brock R, Gijsbers R, van den Heuvel L, Levtchenko E.
    Sci Rep; 2023 Nov 28; 13(1):20961. PubMed ID: 38016974
    [Abstract] [Full Text] [Related]

  • 23. Cystinosis and two rare mutations in CTNS gene: two case reports.
    Gholami Yarahmadi S, Sarlaki F, Morovvati S.
    J Med Case Rep; 2022 May 06; 16(1):181. PubMed ID: 35513889
    [Abstract] [Full Text] [Related]

  • 24. Gene transfer may be preventive but not curative for a lysosomal transport disorder.
    Hippert C, Dubois G, Morin C, Disson O, Ibanes S, Jacquet C, Schwendener R, Antignac C, Kremer EJ, Kalatzis V.
    Mol Ther; 2008 Aug 06; 16(8):1372-81. PubMed ID: 18578013
    [Abstract] [Full Text] [Related]

  • 25. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
    Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA.
    Pediatr Res; 2000 Jan 06; 47(1):17-23. PubMed ID: 10625078
    [Abstract] [Full Text] [Related]

  • 26. Two novel CTNS mutations in cystinosis patients in Thailand.
    Yeetong P, Tongkobpetch S, Kingwatanakul P, Deekajorndech T, Bernardini IM, Suphapeetiporn K, Gahl WA, Shotelersuk V.
    Gene; 2012 May 15; 499(2):323-5. PubMed ID: 22450360
    [Abstract] [Full Text] [Related]

  • 27. CTNS mutations in patients with cystinosis.
    Anikster Y, Shotelersuk V, Gahl WA.
    Hum Mutat; 1999 May 15; 14(6):454-8. PubMed ID: 10571941
    [Abstract] [Full Text] [Related]

  • 28. 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 15; 7(2):158-74. PubMed ID: 25586965
    [Abstract] [Full Text] [Related]

  • 29. [Cystinosis: From the gene identification to the first gene therapy clinical trial].
    Cherqui S.
    Med Sci (Paris); 2023 Mar 15; 39(3):253-261. PubMed ID: 36943122
    [Abstract] [Full Text] [Related]

  • 30. 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. PubMed ID: 28465352
    [Abstract] [Full Text] [Related]

  • 31.
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  • 32. 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 23; 22(21):7622-32. PubMed ID: 12370309
    [Abstract] [Full Text] [Related]

  • 33.
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  • 34. Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.
    Jamalpoor A, van Gelder CA, Yousef Yengej FA, Zaal EA, Berlingerio SP, Veys KR, Pou Casellas C, Voskuil K, Essa K, Ammerlaan CM, Rega LR, van der Welle RE, Lilien MR, Rookmaaker MB, Clevers H, Klumperman J, Levtchenko E, Berkers CR, Verhaar MC, Altelaar M, Masereeuw R, Janssen MJ.
    EMBO Mol Med; 2021 Jul 07; 13(7):e13067. PubMed ID: 34165243
    [Abstract] [Full Text] [Related]

  • 35. Analysis of CTNS gene transcripts in nephropathic cystinosis.
    Taranta A, Wilmer MJ, van den Heuvel LP, Bencivenga P, Bellomo F, Levtchenko EN, Emma F.
    Pediatr Nephrol; 2010 Jul 07; 25(7):1263-7. PubMed ID: 20352457
    [Abstract] [Full Text] [Related]

  • 36. Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model.
    Goodman S, Khan M, Sharma J, Li Z, Cano J, Castellanos C, Estrada MV, Gertsman I, Cherqui S.
    Mol Genet Metab; 2021 Dec 07; 134(4):309-316. PubMed ID: 34823997
    [Abstract] [Full Text] [Related]

  • 37. Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.
    Machuca-Gayet I, Quinaux T, Bertholet-Thomas A, Gaillard S, Claramunt-Taberner D, Acquaviva-Bourdain C, Bacchetta J.
    Int J Mol Sci; 2020 Apr 28; 21(9):. PubMed ID: 32354056
    [Abstract] [Full Text] [Related]

  • 38. The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.
    Wilmer MJ, Emma F, Levtchenko EN.
    Am J Physiol Renal Physiol; 2010 Nov 28; 299(5):F905-16. PubMed ID: 20826575
    [Abstract] [Full Text] [Related]

  • 39. Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.
    Iglesias DM, El-Kares R, Taranta A, Bellomo F, Emma F, Besouw M, Levtchenko E, Toelen J, van den Heuvel L, Chu L, Zhao J, Young YK, Eliopoulos N, Goodyer P.
    PLoS One; 2012 Nov 28; 7(8):e42840. PubMed ID: 22912749
    [Abstract] [Full Text] [Related]

  • 40. Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis.
    Bellomo F, Signorile A, Tamma G, Ranieri M, Emma F, De Rasmo D.
    Cell Mol Life Sci; 2018 Sep 28; 75(18):3411-3422. PubMed ID: 29549422
    [Abstract] [Full Text] [Related]

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