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566 related items for PubMed ID: 15542393

  • 1. Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.
    Chikh K, Vey S, Simonot C, Vanier MT, Millat G.
    Mol Genet Metab; 2004 Nov; 83(3):220-30. PubMed ID: 15542393
    [Abstract] [Full Text] [Related]

  • 2. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
    Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G.
    Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
    [Abstract] [Full Text] [Related]

  • 3. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
    Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G.
    Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
    [Abstract] [Full Text] [Related]

  • 4. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
    Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.
    Mol Genet Metab; 2005 Apr; 86(1-2):220-32. PubMed ID: 16126423
    [Abstract] [Full Text] [Related]

  • 5. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
    Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K.
    Hum Mutat; 2003 Oct; 22(4):313-25. PubMed ID: 12955717
    [Abstract] [Full Text] [Related]

  • 6. Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group.
    Christomanou H, Vanier MT, Santambrogio P, Arosio P, Kleijer WJ, Harzer K.
    Mol Genet Metab; 2000 Jul; 70(3):196-202. PubMed ID: 10924274
    [Abstract] [Full Text] [Related]

  • 7. The subcellular localization of the Niemann-Pick Type C proteins depends on the adaptor complex AP-3.
    Berger AC, Salazar G, Styers ML, Newell-Litwa KA, Werner E, Maue RA, Corbett AH, Faundez V.
    J Cell Sci; 2007 Oct 15; 120(Pt 20):3640-52. PubMed ID: 17895371
    [Abstract] [Full Text] [Related]

  • 8. Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.
    Vance JE, Peake KB.
    Curr Opin Lipidol; 2011 Jun 15; 22(3):204-9. PubMed ID: 21412152
    [Abstract] [Full Text] [Related]

  • 9. Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease.
    Paul CA, Reid PC, Boegle AK, Karten B, Zhang M, Jiang ZG, Franz D, Lin L, Chang TY, Vance JE, Blanchette-Mackie J, Maue RA.
    J Neurosci Res; 2005 Sep 01; 81(5):706-19. PubMed ID: 16015597
    [Abstract] [Full Text] [Related]

  • 10. Lipid imbalance in the neurological disorder, Niemann-Pick C disease.
    Vance JE.
    FEBS Lett; 2006 Oct 09; 580(23):5518-24. PubMed ID: 16797010
    [Abstract] [Full Text] [Related]

  • 11. Identification of HE1 as the second gene of Niemann-Pick C disease.
    Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, Jadot M, Lobel P.
    Science; 2000 Dec 22; 290(5500):2298-301. PubMed ID: 11125141
    [Abstract] [Full Text] [Related]

  • 12. Niemann-Pick type C disease: a QM/MM study of conformational changes in cholesterol in the NPC1(NTD) and NPC2 binding pockets.
    Elghobashi-Meinhardt N.
    Biochemistry; 2014 Oct 21; 53(41):6603-14. PubMed ID: 25251378
    [Abstract] [Full Text] [Related]

  • 13. Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking.
    Zhang M, Sun M, Dwyer NK, Comly ME, Patel SC, Sundaram R, Hanover JA, Blanchette-Mackie EJ.
    Acta Paediatr Suppl; 2003 Dec 21; 92(443):63-73; discussion 45. PubMed ID: 14989468
    [Abstract] [Full Text] [Related]

  • 14. Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
    Tamura H, Takahashi T, Ban N, Torisu H, Ninomiya H, Takada G, Inagaki N.
    Mol Genet Metab; 2006 Feb 21; 87(2):113-21. PubMed ID: 16143556
    [Abstract] [Full Text] [Related]

  • 15. ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.
    Boadu E, Nelson RC, Francis GA.
    Biochim Biophys Acta; 2012 Mar 21; 1821(3):396-404. PubMed ID: 22179027
    [Abstract] [Full Text] [Related]

  • 16. Physiological and coordinate downregulation of the NPC1 and NPC2 genes are associated with the sequestration of LDL-derived cholesterol within endocytic compartments.
    Jelinek D, Patrick SM, Kitt KN, Chan T, Francis GA, Garver WS.
    J Cell Biochem; 2009 Dec 01; 108(5):1102-16. PubMed ID: 19746448
    [Abstract] [Full Text] [Related]

  • 17. Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.
    Goldman SD, Krise JP.
    J Biol Chem; 2010 Feb 12; 285(7):4983-94. PubMed ID: 20007703
    [Abstract] [Full Text] [Related]

  • 18. Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.
    Lloyd-Evans E, Platt FM.
    Traffic; 2010 Apr 12; 11(4):419-28. PubMed ID: 20059748
    [Abstract] [Full Text] [Related]

  • 19. Niemann-Pick Disease Type C: from molecule to clinic.
    Tang Y, Li H, Liu JP.
    Clin Exp Pharmacol Physiol; 2010 Jan 12; 37(1):132-40. PubMed ID: 19566836
    [Abstract] [Full Text] [Related]

  • 20. Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.
    Watari H, Blanchette-Mackie EJ, Dwyer NK, Watari M, Burd CG, Patel S, Pentchev PG, Strauss JF.
    Exp Cell Res; 2000 Aug 25; 259(1):247-56. PubMed ID: 10942596
    [Abstract] [Full Text] [Related]

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