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Journal Abstract Search

267 related items for PubMed ID: 11001808

  • 1. The structure and function of the Niemann-Pick C1 protein.
    Ioannou YA.
    Mol Genet Metab; 2000; 71(1-2):175-81. PubMed ID: 11001808
    [Abstract] [Full Text] [Related]

  • 2. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.
    Davies JP, Levy B, Ioannou YA.
    Genomics; 2000 Apr 15; 65(2):137-45. PubMed ID: 10783261
    [Abstract] [Full Text] [Related]

  • 3. Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network.
    Higgins ME, Davies JP, Chen FW, Ioannou YA.
    Mol Genet Metab; 1999 Sep 15; 68(1):1-13. PubMed ID: 10479477
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 22(4):313-25. PubMed ID: 12955717
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.
    Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED.
    Biochem Biophys Res Commun; 1999 Aug 02; 261(2):493-8. PubMed ID: 10425213
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Guilty until proven innocent: the case of NPC1 and cholesterol.
    Ioannou YA.
    Trends Biochem Sci; 2005 Sep 09; 30(9):498-505. PubMed ID: 16054367
    [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. 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 01; 70(3):196-202. PubMed ID: 10924274
    [Abstract] [Full Text] [Related]

  • 11. Transmembrane molecular pump activity of Niemann-Pick C1 protein.
    Davies JP, Chen FW, Ioannou YA.
    Science; 2000 Dec 22; 290(5500):2295-8. PubMed ID: 11125140
    [Abstract] [Full Text] [Related]

  • 12. The NPC1 protein: structure implies function.
    Scott C, Ioannou YA.
    Biochim Biophys Acta; 2004 Oct 11; 1685(1-3):8-13. PubMed ID: 15465421
    [Abstract] [Full Text] [Related]

  • 13. Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.
    Vance JE, Peake KB.
    Curr Opin Lipidol; 2011 Jun 11; 22(3):204-9. PubMed ID: 21412152
    [Abstract] [Full Text] [Related]

  • 14. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
    Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA.
    Science; 1997 Jul 11; 277(5323):228-31. PubMed ID: 9211849
    [Abstract] [Full Text] [Related]

  • 15. 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 11; 83(3):220-30. PubMed ID: 15542393
    [Abstract] [Full Text] [Related]

  • 16. Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.
    Watari H, Blanchette-Mackie EJ, Dwyer NK, Watari M, Neufeld EB, Patel S, Pentchev PG, Strauss JF.
    J Biol Chem; 1999 Jul 30; 274(31):21861-6. PubMed ID: 10419504
    [Abstract] [Full Text] [Related]

  • 17. Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
    Watari H, Blanchette-Mackie EJ, Dwyer NK, Glick JM, Patel S, Neufeld EB, Brady RO, Pentchev PG, Strauss JF.
    Proc Natl Acad Sci U S A; 1999 Feb 02; 96(3):805-10. PubMed ID: 9927649
    [Abstract] [Full Text] [Related]

  • 18. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo.
    Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss JF, Vanier MT, Patterson MC, Brady RO, Pentchev PG, Blanchette-Mackie EJ.
    J Biol Chem; 1999 Apr 02; 274(14):9627-35. PubMed ID: 10092649
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 87(2):113-21. PubMed ID: 16143556
    [Abstract] [Full Text] [Related]

  • 20. Targeting of NPC1 to late endosomes involves multiple signals, including one residing within the putative sterol-sensing domain.
    Scott C, Higgins ME, Davies JP, Ioannou YA.
    J Biol Chem; 2004 Nov 12; 279(46):48214-23. PubMed ID: 15347664
    [Abstract] [Full Text] [Related]

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