These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

444 related items for PubMed ID: 16000318

  • 1. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
    Ron I, Horowitz M.
    Hum Mol Genet; 2005 Aug 15; 14(16):2387-98. PubMed ID: 16000318
    [Abstract] [Full Text] [Related]

  • 2. Gaucher disease paradigm: from ERAD to comorbidity.
    Bendikov-Bar I, Horowitz M.
    Hum Mutat; 2012 Oct 15; 33(10):1398-407. PubMed ID: 22623374
    [Abstract] [Full Text] [Related]

  • 3. Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
    Sawkar AR, Schmitz M, Zimmer KP, Reczek D, Edmunds T, Balch WE, Kelly JW.
    ACS Chem Biol; 2006 May 23; 1(4):235-51. PubMed ID: 17163678
    [Abstract] [Full Text] [Related]

  • 4. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
    Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ.
    FEBS J; 2006 Sep 23; 273(17):4082-92. PubMed ID: 16934036
    [Abstract] [Full Text] [Related]

  • 5. Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients.
    Ron I, Horowitz M.
    Mol Genet Metab; 2008 Apr 23; 93(4):426-36. PubMed ID: 18160322
    [Abstract] [Full Text] [Related]

  • 6. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.
    Mizukami H, Mi Y, Wada R, Kono M, Yamashita T, Liu Y, Werth N, Sandhoff R, Sandhoff K, Proia RL.
    J Clin Invest; 2002 May 23; 109(9):1215-21. PubMed ID: 11994410
    [Abstract] [Full Text] [Related]

  • 7. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 May 23; 3(1):1-11. PubMed ID: 8118460
    [Abstract] [Full Text] [Related]

  • 8. Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
    van Weely S, van den Berg M, Barranger JA, Sa Miranda MC, Tager JM, Aerts JM.
    J Clin Invest; 1993 Mar 23; 91(3):1167-75. PubMed ID: 8450045
    [Abstract] [Full Text] [Related]

  • 9. Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
    Wang F, Agnello G, Sotolongo N, Segatori L.
    ACS Chem Biol; 2011 Feb 18; 6(2):158-68. PubMed ID: 21043486
    [Abstract] [Full Text] [Related]

  • 10. Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
    Schmitz M, Alfalah M, Aerts JM, Naim HY, Zimmer KP.
    Int J Biochem Cell Biol; 2005 Nov 18; 37(11):2310-20. PubMed ID: 15982918
    [Abstract] [Full Text] [Related]

  • 11. Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
    Zimmer KP, le Coutre P, Aerts HM, Harzer K, Fukuda M, O'Brien JS, Naim HY.
    J Pathol; 1999 Aug 18; 188(4):407-14. PubMed ID: 10440752
    [Abstract] [Full Text] [Related]

  • 12. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.
    Sawkar AR, Adamski-Werner SL, Cheng WC, Wong CH, Beutler E, Zimmer KP, Kelly JW.
    Chem Biol; 2005 Nov 18; 12(11):1235-44. PubMed ID: 16298303
    [Abstract] [Full Text] [Related]

  • 13. Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase.
    Bendikov-Bar I, Maor G, Filocamo M, Horowitz M.
    Blood Cells Mol Dis; 2013 Feb 18; 50(2):141-5. PubMed ID: 23158495
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H.
    Eur J Med Genet; 2008 Feb 18; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.
    Bendikov-Bar I, Ron I, Filocamo M, Horowitz M.
    Blood Cells Mol Dis; 2011 Jan 15; 46(1):4-10. PubMed ID: 21106416
    [Abstract] [Full Text] [Related]

  • 18. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS, LaMarca ME, Scott CR, Sidransky E.
    Hum Mutat; 2008 May 15; 29(5):567-83. PubMed ID: 18338393
    [Abstract] [Full Text] [Related]

  • 19. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
    Reczek D, Schwake M, Schröder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P.
    Cell; 2007 Nov 16; 131(4):770-83. PubMed ID: 18022370
    [Abstract] [Full Text] [Related]

  • 20. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
    Sánchez-Ollé G, Duque J, Egido-Gabás M, Casas J, Lluch M, Chabás A, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2009 Nov 16; 42(2):159-66. PubMed ID: 19167250
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 23.