臨床薬理の進歩 No.43
111/233

文   献1)Hashimoto N, Matsumoto I, Takahashi H, Ashikawa H, Nakamura H, Murayama T. Cholesterol-dependent increases in glucosylceramide synthase activity in Niemann-Pick disease type C model cells: Abnormal trafficking of endogenously formed ceramide metabolites by inhibition of the enzyme. Neuropharmacology 2016; 110: 458-69.2)Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 2008; 14: 1247-55.3)Lee H, Lee JK, Park MH, Hong YR, Marti HH, Kim H, et al. Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons. Nat Commun 2014; 5: 5514.5)Wanikawa M, Nakamura H, Emori S, Hashimoto N, Murayama T. Accumulation of sphingomyelin in Niemann-Pick disease type C cells disrupts Rab9-dependent vesicular trafficking of cholesterol. J Cell Physiol 2020; 235: 2300-9.7)Matsumoto T, Fujimori K, Andoh-Noda T, Ando T, Kuzumaki N, Toyoshima M, et al. Functional neurons generated from T cell-derived induced pluripotent stem cells for neurological disease modeling. Stem Cell Reports 2016; 6: 422-35.4)Devlin C, Pipalia NH, Liao X, Schuchman EH, Maxfield FR, Tabas I. Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect. Traffic 2010; 11: 601-15.6)Higaki K, Ninomiya H, Sugimoto Y, Suzuki T, Taniguchi M, Niwa H, et al. Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis. J Biochem 2001; 129: 875-80.8)Fan M, Sidhu R, Fujiwara H, Tortelli B, Zhang J, Davidson C, et al. Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res 2013; 54: 2800-14.9)Tharkeshwar AK, Trekker J, Vermeire W, Pauwels J, Sannerud R, Priestman DA, et al. A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency. Sci Rep 2017; 7: 41408.10)Bi X, Liu J, Yao Y, Baudry M, Lynch G. Deregulation of the phosphatidylinositol-3 kinase signaling cascade is associated with neurodegeneration in Npc1-/- mouse brain. Am J Pathol 2005; 167: 1081-92.11)Baudry M, Yao Y, Simmons D, Liu J, Bi X. Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia. Exp Neurol 2003; 184: 887-903.12)Suzuki M, Sugimoto Y, Ohsaki Y, Ueno M, Kato S, Kitamura Y, et al. Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activation in the NPC brain. J Neurosci 2007; 27: 1879-91.13)Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci USA 2009; 106: 2377–82.14)Maass F, Petersen J, Hovakimyan M, Schmitt O, Witt M, Hawlitschka A, et al. Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: a mouse model of Niemann-Pick type C1 disease. J Neurosci Res 2015; 93: 433-42.97

元のページ  ../index.html#111

このブックを見る