BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 10942425)

  • 1. Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function.
    Marathe S; Miranda SR; Devlin C; Johns A; Kuriakose G; Williams KJ; Schuchman EH; Tabas I
    Hum Mol Genet; 2000 Aug; 9(13):1967-76. PubMed ID: 10942425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene.
    Schissel SL; Schuchman EH; Williams KJ; Tabas I
    J Biol Chem; 1996 Aug; 271(31):18431-6. PubMed ID: 8702487
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells.
    Graber D; Salvayre R; Levade T
    J Neurochem; 1994 Sep; 63(3):1060-8. PubMed ID: 8051547
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease.
    Dodge JC; Clarke J; Song A; Bu J; Yang W; Taksir TV; Griffiths D; Zhao MA; Schuchman EH; Cheng SH; O'Riordan CR; Shihabuddin LS; Passini MA; Stewart GR
    Proc Natl Acad Sci U S A; 2005 Dec; 102(49):17822-7. PubMed ID: 16301517
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology.
    Shihabuddin LS; Numan S; Huff MR; Dodge JC; Clarke J; Macauley SL; Yang W; Taksir TV; Parsons G; Passini MA; Gage FH; Stewart GR
    J Neurosci; 2004 Nov; 24(47):10642-51. PubMed ID: 15564580
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect.
    Devlin C; Pipalia NH; Liao X; Schuchman EH; Maxfield FR; Tabas I
    Traffic; 2010 May; 11(5):601-15. PubMed ID: 20412078
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration.
    Macauley SL; Sidman RL; Schuchman EH; Taksir T; Stewart GR
    Exp Neurol; 2008 Dec; 214(2):181-92. PubMed ID: 18778708
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span.
    Jin HK; Carter JE; Huntley GW; Schuchman EH
    J Clin Invest; 2002 May; 109(9):1183-91. PubMed ID: 11994407
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease).
    Otterbach B; Stoffel W
    Cell; 1995 Jun; 81(7):1053-61. PubMed ID: 7600574
    [TBL] [Abstract][Full Text] [Related]  

  • 10. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease.
    Barbon CM; Ziegler RJ; Li C; Armentano D; Cherry M; Desnick RJ; Schuchman EH; Cheng SH
    Mol Ther; 2005 Sep; 12(3):431-40. PubMed ID: 16099409
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing.
    Jenkins RW; Idkowiak-Baldys J; Simbari F; Canals D; Roddy P; Riner CD; Clarke CJ; Hannun YA
    J Biol Chem; 2011 Feb; 286(5):3777-88. PubMed ID: 21098024
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease.
    Ginzburg L; Futerman AH
    J Neurochem; 2005 Dec; 95(6):1619-28. PubMed ID: 16277603
    [TBL] [Abstract][Full Text] [Related]  

  • 13. AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease.
    Passini MA; Macauley SL; Huff MR; Taksir TV; Bu J; Wu IH; Piepenhagen PA; Dodge JC; Shihabuddin LS; O'Riordan CR; Schuchman EH; Stewart GR
    Mol Ther; 2005 May; 11(5):754-62. PubMed ID: 15851014
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease.
    Miranda SR; Erlich S; Friedrich VL; Gatt S; Schuchman EH
    Gene Ther; 2000 Oct; 7(20):1768-76. PubMed ID: 11083499
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Macrophage uptake of oxidized LDL inhibits lysosomal sphingomyelinase, thus causing the accumulation of unesterified cholesterol-sphingomyelin-rich particles in the lysosomes. A possible role for 7-Ketocholesterol.
    Maor I; Mandel H; Aviram M
    Arterioscler Thromb Vasc Biol; 1995 Sep; 15(9):1378-87. PubMed ID: 7670952
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Advances in molecular genetics of the Niemann-Pick group of diseases].
    Ohno K
    Nihon Rinsho; 1993 Sep; 51(9):2293-9. PubMed ID: 8411705
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase gene.
    Schissel SL; Keesler GA; Schuchman EH; Williams KJ; Tabas I
    J Biol Chem; 1998 Jul; 273(29):18250-9. PubMed ID: 9660788
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms.
    Besley GT; Elleder M
    J Inherit Metab Dis; 1986; 9(1):59-71. PubMed ID: 3014212
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Study of acid sphingomyelinase in Niemann-Pick mice].
    Sakiyama T; Kitagawa T
    Tanpakushitsu Kakusan Koso; 1991 Feb; 36(3):484-90. PubMed ID: 2024027
    [No Abstract]   [Full Text] [Related]  

  • 20. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
    Horinouchi K; Erlich S; Perl DP; Ferlinz K; Bisgaier CL; Sandhoff K; Desnick RJ; Stewart CL; Schuchman EH
    Nat Genet; 1995 Jul; 10(3):288-93. PubMed ID: 7670466
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.