BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

643 related articles for article (PubMed ID: 19566836)

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

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

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

  • 4. The adult form of Niemann-Pick disease type C.
    Sévin M; Lesca G; Baumann N; Millat G; Lyon-Caen O; Vanier MT; Sedel F
    Brain; 2007 Jan; 130(Pt 1):120-33. PubMed ID: 17003072
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type C.
    Deisz RA; Meske V; Treiber-Held S; Albert F; Ohm TG
    Neuroscience; 2005; 130(4):867-73. PubMed ID: 15652985
    [TBL] [Abstract][Full Text] [Related]  

  • 6. NPC-db, a Niemann-Pick type C disease gene variation database.
    Runz H; Dolle D; Schlitter AM; Zschocke J
    Hum Mutat; 2008 Mar; 29(3):345-50. PubMed ID: 18081003
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. Defective cholesterol trafficking in Niemann-Pick C-deficient cells.
    Peake KB; Vance JE
    FEBS Lett; 2010 Jul; 584(13):2731-9. PubMed ID: 20416299
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Annexins in Niemann-Pick type C disease].
    Buszewska ME; Strzelecka-Kiliszek A; Tylki-Szymańska A; Bandorowicz-Pikuła J
    Postepy Biochem; 2007; 53(2):169-73. PubMed ID: 17969878
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Impaired dynamics of the late endosome/lysosome compartment in human Niemann-Pick type C skin fibroblasts carrying mutation in NPC1 gene.
    Sztolsztener ME; Dobrzyn A; Pikula S; Tylki-Szymanska A; Bandorowicz-Pikula J
    Mol Biosyst; 2012 Apr; 8(4):1197-205. PubMed ID: 22286891
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cholesterol involvement in the pathogenesis of neurodegenerative diseases.
    Liu JP; Tang Y; Zhou S; Toh BH; McLean C; Li H
    Mol Cell Neurosci; 2010 Jan; 43(1):33-42. PubMed ID: 19660552
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 86(1-2):220-32. PubMed ID: 16126423
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cellular mechanism of U18666A-mediated apoptosis in cultured murine cortical neurons: bridging Niemann-Pick disease type C and Alzheimer's disease.
    Koh CH; Cheung NS
    Cell Signal; 2006 Nov; 18(11):1844-53. PubMed ID: 16797161
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 81(5):706-19. PubMed ID: 16015597
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
    Alavi A; Nafissi S; Shamshiri H; Nejad MM; Elahi E
    Mol Genet Metab; 2013; 110(1-2):139-44. PubMed ID: 23791309
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 1821(3):396-404. PubMed ID: 22179027
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.