메뉴 건너뛰기




Volumn 30, Issue 9, 2005, Pages 498-505

Guilty until proven innocent: The case of NPC1 and cholesterol

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; NIEMANN PCIK C2 PROTEIN; NIEMANN PICK C1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 23944442427     PISSN: 09680004     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tibs.2005.07.007     Document Type: Article
Times cited : (28)

References (52)
  • 1
    • 0000831301 scopus 로고    scopus 로고
    • Niemann-Pick disease type C: A lipid trafficking disorder
    • C.R. Scriver McGraw-Hill*et al.
    • M.C. Patterson Niemann-Pick disease type C: a lipid trafficking disorder C.R. Scriver The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill 3611 3633
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3611-3633
    • Patterson, M.C.1
  • 2
    • 0021346802 scopus 로고
    • A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol
    • P.G. Pentchev A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol J. Biol. Chem. 259 1984 5784 5791
    • (1984) J. Biol. Chem. , vol.259 , pp. 5784-5791
    • Pentchev, P.G.1
  • 3
    • 0034704245 scopus 로고    scopus 로고
    • Identification of HE1 as the second gene of Niemann-Pick C disease
    • S. Naureckiene Identification of HE1 as the second gene of Niemann-Pick C disease Science 290 2000 2298 2301
    • (2000) Science , vol.290 , pp. 2298-2301
    • Naureckiene, S.1
  • 4
    • 0041700117 scopus 로고    scopus 로고
    • Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent
    • M.C. Gondre-Lewis Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent Curr. Biol. 13 2003 1324 1329
    • (2003) Curr. Biol. , vol.13 , pp. 1324-1329
    • Gondre-Lewis, M.C.1
  • 5
    • 0034639928 scopus 로고    scopus 로고
    • Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
    • Y. Liu Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse Hum. Mol. Genet. 9 2000 1087 1092
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1087-1092
    • Liu, Y.1
  • 6
    • 10744226129 scopus 로고    scopus 로고
    • Mutagenesis of the putative sterol-sensing domain of yeast Niemann-Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution
    • K. Malathi Mutagenesis of the putative sterol-sensing domain of yeast Niemann-Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution J. Cell Biol. 164 2004 547 556
    • (2004) J. Cell Biol. , vol.164 , pp. 547-556
    • Malathi, K.1
  • 7
    • 11144355005 scopus 로고    scopus 로고
    • Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
    • D.E. Sleat Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport Proc. Natl. Acad. Sci. U. S. A. 101 2004 5886 5891
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 5886-5891
    • Sleat, D.E.1
  • 8
    • 0000721551 scopus 로고
    • A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
    • P.G. Pentchev A defect in cholesterol esterification in Niemann-Pick disease (type C) patients Proc. Natl. Acad. Sci. U. S. A. 82 1985 8247 8251
    • (1985) Proc. Natl. Acad. Sci. U. S. A. , vol.82 , pp. 8247-8251
    • Pentchev, P.G.1
  • 9
    • 0030863352 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
    • E.D. Carstea Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis Science 277 1997 228 231
    • (1997) Science , vol.277 , pp. 228-231
    • Carstea, E.D.1
  • 10
    • 0027976761 scopus 로고
    • The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
    • P.G. Pentchev The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol Biochim. Biophys. Acta 1225 1994 235 243
    • (1994) Biochim. Biophys. Acta , vol.1225 , pp. 235-243
    • Pentchev, P.G.1
  • 11
    • 0036193438 scopus 로고    scopus 로고
    • Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae
    • W.S. Garver Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae J. Lipid Res. 43 2002 579 589
    • (2002) J. Lipid Res. , vol.43 , pp. 579-589
    • Garver, W.S.1
  • 12
    • 0038158091 scopus 로고    scopus 로고
    • The transport of low density lipoprotein-derived cholesterol to the plasma membrane is defective in NPC1 cells
    • K.M. Wojtanik, and L. Liscum The transport of low density lipoprotein-derived cholesterol to the plasma membrane is defective in NPC1 cells J. Biol. Chem. 278 2003 14850 14856
    • (2003) J. Biol. Chem. , vol.278 , pp. 14850-14856
    • Wojtanik, K.M.1    Liscum, L.2
  • 13
    • 0032563304 scopus 로고    scopus 로고
    • Circulation of cholesterol between lysosomes and the plasma membrane
    • Y. Lange Circulation of cholesterol between lysosomes and the plasma membrane J. Biol. Chem. 273 1998 18915 18922
    • (1998) J. Biol. Chem. , vol.273 , pp. 18915-18922
    • Lange, Y.1
  • 14
    • 0034623958 scopus 로고    scopus 로고
    • Niemann-pick type C1 (NPC1) overexpression alters cellular cholesterol homeostasis
    • E.E. Millard Niemann-pick type C1 (NPC1) overexpression alters cellular cholesterol homeostasis J. Biol. Chem. 275 2000 38445 38451
    • (2000) J. Biol. Chem. , vol.275 , pp. 38445-38451
    • Millard, E.E.1
  • 15
    • 0034988887 scopus 로고    scopus 로고
    • Depletion of rafts in late endocytic membranes is controlled by NPC1-dependent recycling of cholesterol to the plasma membrane
    • S. Lusa Depletion of rafts in late endocytic membranes is controlled by NPC1-dependent recycling of cholesterol to the plasma membrane J. Cell Sci. 114 2001 1893 1900
    • (2001) J. Cell Sci. , vol.114 , pp. 1893-1900
    • Lusa, S.1
  • 16
    • 0033203501 scopus 로고    scopus 로고
    • Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases
    • V. Puri Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases Nat. Cell Biol. 1 1999 386 388
    • (1999) Nat. Cell Biol. , vol.1 , pp. 386-388
    • Puri, V.1
  • 17
    • 0035793562 scopus 로고    scopus 로고
    • Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes
    • M. Zhang Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes J. Biol. Chem. 276 2001 3417 3425
    • (2001) J. Biol. Chem. , vol.276 , pp. 3417-3425
    • Zhang, M.1
  • 18
    • 0037086443 scopus 로고    scopus 로고
    • Late endosome motility depends on lipids via the small GTPase Rab7
    • C. Lebrand Late endosome motility depends on lipids via the small GTPase Rab7 EMBO J. 21 2002 1289 1300
    • (2002) EMBO J. , vol.21 , pp. 1289-1300
    • Lebrand, C.1
  • 19
    • 0041335569 scopus 로고    scopus 로고
    • Niemann-Pick C heterozygosity confers resistance to lesional necrosis and macrophage apoptosis in murine atherosclerosis
    • B. Feng Niemann-Pick C heterozygosity confers resistance to lesional necrosis and macrophage apoptosis in murine atherosclerosis Proc. Natl. Acad. Sci. U. S. A. 100 2003 10423 10428
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 10423-10428
    • Feng, B.1
  • 20
    • 0034630258 scopus 로고    scopus 로고
    • Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin
    • N.D. Ridgway Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin Biochim. Biophys. Acta 1484 2000 129 141
    • (2000) Biochim. Biophys. Acta , vol.1484 , pp. 129-141
    • Ridgway, N.D.1
  • 21
    • 0035098787 scopus 로고    scopus 로고
    • Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts
    • K. Harzer, and B. Kustermann-Kuhn Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts Clin. Chim. Acta 305 2001 65 73
    • (2001) Clin. Chim. Acta , vol.305 , pp. 65-73
    • Harzer, K.1    Kustermann-Kuhn, B.2
  • 22
    • 0035142802 scopus 로고    scopus 로고
    • Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
    • M. Zervas Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations J. Neuropathol. Exp. Neurol. 60 2001 49 64
    • (2001) J. Neuropathol. Exp. Neurol. , vol.60 , pp. 49-64
    • Zervas, M.1
  • 23
    • 0034801896 scopus 로고    scopus 로고
    • Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain
    • M. Taniguchi Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain Brain Dev. 23 2001 414 421
    • (2001) Brain Dev. , vol.23 , pp. 414-421
    • Taniguchi, M.1
  • 24
    • 0035928841 scopus 로고    scopus 로고
    • Critical role for glycosphingolipids in Niemann-Pick disease type C
    • M. Zervas Critical role for glycosphingolipids in Niemann-Pick disease type C Curr. Biol. 11 2001 1283 1287
    • (2001) Curr. Biol. , vol.11 , pp. 1283-1287
    • Zervas, M.1
  • 25
    • 0035934173 scopus 로고    scopus 로고
    • Degeneration of neurons and glia in the Niemann-Pick C mouse is unrelated to the low-density lipoprotein receptor
    • D.C. German Degeneration of neurons and glia in the Niemann-Pick C mouse is unrelated to the low-density lipoprotein receptor Neuroscience 105 2001 999 1005
    • (2001) Neuroscience , vol.105 , pp. 999-1005
    • German, D.C.1
  • 26
    • 0036896284 scopus 로고    scopus 로고
    • Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons
    • B. Karten Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons J. Neurochem. 83 2002 1154 1163
    • (2002) J. Neurochem. , vol.83 , pp. 1154-1163
    • Karten, B.1
  • 27
    • 0034637440 scopus 로고    scopus 로고
    • Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein
    • J.P. Davies, and Y.A. Ioannou Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein J. Biol. Chem. 275 2000 24367 24374
    • (2000) J. Biol. Chem. , vol.275 , pp. 24367-24374
    • Davies, J.P.1    Ioannou, Y.A.2
  • 28
    • 0034704244 scopus 로고    scopus 로고
    • Transmembrane molecular pump activity of Niemann-Pick C1 protein
    • J.P. Davies Transmembrane molecular pump activity of Niemann-Pick C1 protein Science 290 2000 2295 2298
    • (2000) Science , vol.290 , pp. 2295-2298
    • Davies, J.P.1
  • 29
    • 0034719404 scopus 로고    scopus 로고
    • Mobilization of late-endosomal cholesterol is inhibited by Rab guanine nucleotide dissociation inhibitor
    • M. Holtta-Vuori Mobilization of late-endosomal cholesterol is inhibited by Rab guanine nucleotide dissociation inhibitor Curr. Biol. 10 2000 95 98
    • (2000) Curr. Biol. , vol.10 , pp. 95-98
    • Holtta-Vuori, M.1
  • 30
    • 0036734602 scopus 로고    scopus 로고
    • Modulation of cellular cholesterol transport and homeostasis by Rab11
    • M. Holtta-Vuori Modulation of cellular cholesterol transport and homeostasis by Rab11 Mol. Biol. Cell 13 2002 3107 3122
    • (2002) Mol. Biol. Cell , vol.13 , pp. 3107-3122
    • Holtta-Vuori, M.1
  • 31
    • 0141876961 scopus 로고    scopus 로고
    • Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes
    • M. Walter Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes J. Lipid Res. 44 2003 243 253
    • (2003) J. Lipid Res. , vol.44 , pp. 243-253
    • Walter, M.1
  • 32
    • 0036083829 scopus 로고    scopus 로고
    • Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells
    • A. Choudhury Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells J. Clin. Invest. 109 2002 1541 1550
    • (2002) J. Clin. Invest. , vol.109 , pp. 1541-1550
    • Choudhury, A.1
  • 33
    • 0035163949 scopus 로고    scopus 로고
    • Dynamic movements of organelles containing niemann-pick c1 protein: Npc1 involvement in late endocytic events
    • D.C. Ko Dynamic movements of organelles containing niemann-pick c1 protein: npc1 involvement in late endocytic events Mol. Biol. Cell 12 2001 601 614
    • (2001) Mol. Biol. Cell , vol.12 , pp. 601-614
    • Ko, D.C.1
  • 34
    • 0035836635 scopus 로고    scopus 로고
    • Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease
    • M. Zhang Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease Proc. Natl. Acad. Sci. U. S. A. 98 2001 4466 4471
    • (2001) Proc. Natl. Acad. Sci. U. S. A. , vol.98 , pp. 4466-4471
    • Zhang, M.1
  • 35
    • 0037418188 scopus 로고    scopus 로고
    • Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease
    • N. Friedland Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease Proc. Natl. Acad. Sci. U. S. A. 100 2003 2512 2517
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 2512-2517
    • Friedland, N.1
  • 36
    • 0344838432 scopus 로고    scopus 로고
    • The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels
    • D.C. Ko The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels Proc. Natl. Acad. Sci. U. S. A. 100 2003 2518 2525
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 2518-2525
    • Ko, D.C.1
  • 37
    • 1642496888 scopus 로고    scopus 로고
    • Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking
    • M. Zhang Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking Acta Paediatr. Suppl. 92 2003 63 73
    • (2003) Acta Paediatr. Suppl. , vol.92 , pp. 63-73
    • Zhang, M.1
  • 38
    • 25144444288 scopus 로고    scopus 로고
    • NPC1 late endosomes contain elevated levels of free fatty acids and an abnormally glycosylated form of the NPC2 protein
    • (in press)
    • Chen, F.W. et al. NPC1 late endosomes contain elevated levels of free fatty acids and an abnormally glycosylated form of the NPC2 protein. Biochem. J. (in press)
    • Biochem. J.
    • Chen, F.W.1
  • 39
    • 0035458847 scopus 로고    scopus 로고
    • Multidrug permeases and subcellular cholesterol transport
    • Y.A. Ioannou Multidrug permeases and subcellular cholesterol transport Nat. Rev. Mol. Cell Biol. 2 2001 657 668
    • (2001) Nat. Rev. Mol. Cell Biol. , vol.2 , pp. 657-668
    • Ioannou, Y.A.1
  • 40
    • 0037200109 scopus 로고    scopus 로고
    • Separation and characterization of late endosomal membrane domains
    • T. Kobayashi Separation and characterization of late endosomal membrane domains J. Biol. Chem. 277 2002 32157 32164
    • (2002) J. Biol. Chem. , vol.277 , pp. 32157-32164
    • Kobayashi, T.1
  • 41
    • 9144273746 scopus 로고    scopus 로고
    • Role of LBPA and Alix in multivesicular liposome formation and endosome organization
    • H. Matsuo Role of LBPA and Alix in multivesicular liposome formation and endosome organization Science 303 2004 531 534
    • (2004) Science , vol.303 , pp. 531-534
    • Matsuo, H.1
  • 42
    • 0033145510 scopus 로고    scopus 로고
    • Late endosomal membranes rich in lysobiphosphatidic acid regulate cholesterol transport
    • T. Kobayashi Late endosomal membranes rich in lysobiphosphatidic acid regulate cholesterol transport Nat. Cell Biol. 1 1999 113 118
    • (1999) Nat. Cell Biol. , vol.1 , pp. 113-118
    • Kobayashi, T.1
  • 43
    • 0035424718 scopus 로고    scopus 로고
    • Implications of lipid microdomains for membrane curvature, budding and fission
    • W.B. Huttner, and J. Zimmerberg Implications of lipid microdomains for membrane curvature, budding and fission Curr. Opin. Cell Biol. 13 2001 478 484
    • (2001) Curr. Opin. Cell Biol. , vol.13 , pp. 478-484
    • Huttner, W.B.1    Zimmerberg, J.2
  • 44
    • 1842784049 scopus 로고    scopus 로고
    • Opinion: The biogenesis of multivesicular endosomes
    • J. Gruenberg, and H. Stenmark Opinion: the biogenesis of multivesicular endosomes Nat. Rev. Mol. Cell Biol. 5 2004 317 323
    • (2004) Nat. Rev. Mol. Cell Biol. , vol.5 , pp. 317-323
    • Gruenberg, J.1    Stenmark, H.2
  • 45
    • 0034252954 scopus 로고    scopus 로고
    • Greasing membrane fusion and fission machineries
    • K.N. Burger Greasing membrane fusion and fission machineries Traffic 1 2000 605 613
    • (2000) Traffic , vol.1 , pp. 605-613
    • Burger, K.N.1
  • 46
    • 0035406208 scopus 로고    scopus 로고
    • How proteins move lipids and lipids move proteins
    • H. Sprong How proteins move lipids and lipids move proteins Nat. Rev. Mol. Cell Biol. 2 2001 504 513
    • (2001) Nat. Rev. Mol. Cell Biol. , vol.2 , pp. 504-513
    • Sprong, H.1
  • 47
    • 0034087155 scopus 로고    scopus 로고
    • Vectorial budding of vesicles by asymmetrical enzymatic formation of ceramide in giant liposomes
    • J.M. Holopainen Vectorial budding of vesicles by asymmetrical enzymatic formation of ceramide in giant liposomes Biophys. J. 78 2000 830 838
    • (2000) Biophys. J. , vol.78 , pp. 830-838
    • Holopainen, J.M.1
  • 48
    • 0032502854 scopus 로고    scopus 로고
    • Natural ceramide is unable to escape the lysosome, in contrast to a fluorescent analogue
    • M. Chatelut Natural ceramide is unable to escape the lysosome, in contrast to a fluorescent analogue FEBS Lett. 426 1998 102 106
    • (1998) FEBS Lett. , vol.426 , pp. 102-106
    • Chatelut, M.1
  • 49
    • 0026648695 scopus 로고
    • Type C Niemann-Pick disease: A murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver
    • E. Goldin Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver Biochim. Biophys. Acta 1127 1992 303 311
    • (1992) Biochim. Biophys. Acta , vol.1127 , pp. 303-311
    • Goldin, E.1
  • 50
    • 0033604565 scopus 로고    scopus 로고
    • CtBP/BARS induces fission of Golgi membranes by acylating lysophosphatidic acid
    • R. Weigert CtBP/BARS induces fission of Golgi membranes by acylating lysophosphatidic acid Nature 402 1999 429 433
    • (1999) Nature , vol.402 , pp. 429-433
    • Weigert, R.1
  • 51
    • 0037205423 scopus 로고    scopus 로고
    • Sphingomyelin modulates the transbilayer distribution of galactosylceramide in phospholipid membranes
    • P. Mattjus Sphingomyelin modulates the transbilayer distribution of galactosylceramide in phospholipid membranes J. Biol. Chem. 277 2002 19476 19481
    • (2002) J. Biol. Chem. , vol.277 , pp. 19476-19481
    • Mattjus, P.1
  • 52
    • 1542379664 scopus 로고    scopus 로고
    • Suppression of macrophage eicosanoid synthesis by atherogenic lipoproteins is profoundly affected by cholesterol-fatty acyl esterification and the Niemann-Pick C pathway of lipid trafficking
    • A.R. Leventhal Suppression of macrophage eicosanoid synthesis by atherogenic lipoproteins is profoundly affected by cholesterol-fatty acyl esterification and the Niemann-Pick C pathway of lipid trafficking J. Biol. Chem. 279 2004 8084 8092
    • (2004) J. Biol. Chem. , vol.279 , pp. 8084-8092
    • Leventhal, A.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.