메뉴 건너뛰기




Volumn 14, Issue 2, 2004, Pages 66-72

The niemann-pick disease genes: Regulators of cellular cholesterol homeostasis

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL;

EID: 1542719049     PISSN: 10501738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tcm.2003.12.003     Document Type: Review
Times cited : (67)

References (41)
  • 1
    • 0001003949 scopus 로고
    • Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
    • Bjorkhem I., Muri-Boberg K. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. Metabolic Basis of Inherited Diseases. 1995;2073-2099 McGraw-Hill, New York.
    • (1995) Metabolic Basis of Inherited Diseases , pp. 2073-2099
    • Bjorkhem, I.1    Muri-Boberg, K.2
  • 3
    • 0036671360 scopus 로고    scopus 로고
    • Cholesterol addition to ER membranes alters conformation of SCAP, the SREBP escort protein that regulates cholesterol metabolism
    • Brown A.J., Sun L., Feramisco JDet al. Cholesterol addition to ER membranes alters conformation of SCAP, the SREBP escort protein that regulates cholesterol metabolism. Mol Cell. 10:2002;237-245.
    • (2002) Mol Cell , vol.10 , pp. 237-245
    • Brown, A.J.1    Sun, L.2    Feramisco, J.-A.3
  • 4
    • 0035976638 scopus 로고    scopus 로고
    • Nuclear receptors and lipid physiology: Opening the X-files
    • Chawla A., Repa J.J., Evans R.M., Mangelsdorf D.J. Nuclear receptors and lipid physiology: opening the X-files. Science. 294:2001;1866-1870.
    • (2001) Science , vol.294 , pp. 1866-1870
    • Chawla, A.1    Repa, J.J.2    Evans, R.M.3    Mangelsdorf, D.J.4
  • 5
    • 0035941367 scopus 로고    scopus 로고
    • Preferential ATP-binding cassette transporter A1-mediated cholesterol efflux from late endosomes/lysosomes
    • Chen W., Sun Y., Welch Cet al. Preferential ATP-binding cassette transporter A1-mediated cholesterol efflux from late endosomes/lysosomes. J Biol Chem. 276:2001;43,564-43,569.
    • (2001) J Biol Chem , vol.276 , pp. 43
    • Chen, W.1    Sun, Y.2    Welch, C.-A.3
  • 6
    • 0041825673 scopus 로고    scopus 로고
    • Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-pick type C disease
    • Choi H.Y., Karten B., Chan Tet al. Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-pick type C disease. J Biol Chem. 278:2003;32,569-32,577.
    • (2003) J Biol Chem , vol.278 , pp. 32
    • Choi, H.Y.1    Karten, B.2    Chan, T.-A.3
  • 7
    • 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
    • Davies J.P., Ioannou Y.A. 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;24,367-24,374.
    • (2000) J Biol Chem , vol.275 , pp. 24
    • Davies, J.P.1    Ioannou, Y.A.2
  • 8
    • 0037044747 scopus 로고    scopus 로고
    • ABCA1-mediated cholesterol efflux is defective in free cholesterol-loaded macrophages
    • Feng B., Tabas I. ABCA1-mediated cholesterol efflux is defective in free cholesterol-loaded macrophages. J Biol Chem. 277:2002;43,271-43,280.
    • (2002) J Biol Chem , vol.277 , pp. 43
    • Feng, B.1    Tabas, I.2
  • 9
    • 0037418188 scopus 로고    scopus 로고
    • Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease
    • Friedland N., Liou H.L., Lobel P., Stock A.M. Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease. Proc Natl Acad Sci. 100:2003;2512-2517.
    • (2003) Proc Natl Acad Sci , vol.100 , pp. 2512-2517
    • Friedland, N.1    Liou, H.L.2    Lobel, P.3    Stock, A.M.4
  • 10
    • 0035824522 scopus 로고    scopus 로고
    • Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function
    • Frolov A., Srivastava K., Daphna-Iken Det al. Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function. J Biol Chem. 276:2001;46,414-46,421.
    • (2001) J Biol Chem , vol.276 , pp. 46
    • Frolov, A.1    Srivastava, K.2    Daphna-Iken, D.-A.3
  • 11
    • 0037815282 scopus 로고    scopus 로고
    • NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of LDL-derived oxysterols
    • Frolov A., Zielinski S.E., Crowley JRet al. NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of LDL-derived oxysterols. J Biol Chem. 278:2003;25,517-25,525.
    • (2003) J Biol Chem , vol.278 , pp. 25
    • Frolov, A.1    Zielinski, S.E.2    Crowley, J.-A.3
  • 12
    • 0035914330 scopus 로고    scopus 로고
    • 27-hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells
    • Fu X., Menke J.G., Chen Yet al. 27-hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells. J Biol Chem. 276:2001;38,378-38,387.
    • (2001) J Biol Chem , vol.276 , pp. 38
    • Fu, X.1    Menke, J.G.2    Chen, Y.-A.3
  • 13
    • 0036251153 scopus 로고    scopus 로고
    • SREBPs: Activators of the complete program of cholesterol and fatty acid synthesis in the liver
    • Horton J.D., Goldstein J.L., Brown M.S. SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. J Clin Invest. 109:2002;1125-1131.
    • (2002) J Clin Invest , vol.109 , pp. 1125-1131
    • Horton, J.D.1    Goldstein, J.L.2    Brown, M.S.3
  • 14
    • 0344838432 scopus 로고    scopus 로고
    • The integrity of the cholesterol binding pocket in Niemann-Pick C2 protein is necessary to control lysosomal cholesterol levels
    • Ko D., Binkley J., Sidow A., Scott M.P. The integrity of the cholesterol binding pocket in Niemann-Pick C2 protein is necessary to control lysosomal cholesterol levels. Proc Natl Acad Sci. 100:2003;2518-2525.
    • (2003) Proc Natl Acad Sci , vol.100 , pp. 2518-2525
    • Ko, D.1    Binkley, J.2    Sidow, A.3    Scott, M.P.4
  • 15
    • 0035163949 scopus 로고    scopus 로고
    • Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events
    • Ko D.C., Gordon M.D., Jin J.Y., Scott M.P. 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    Gordon, M.D.2    Jin, J.Y.3    Scott, M.P.4
  • 16
    • 0027972084 scopus 로고
    • Cholesterol homeostasis
    • Lange Y., Steck T.L. Cholesterol homeostasis. J Biol Chem. 269:1994;29,371-29,374.
    • (1994) J Biol Chem , vol.269 , pp. 29
    • Lange, Y.1    Steck, T.L.2
  • 17
    • 0034625354 scopus 로고    scopus 로고
    • Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles
    • Lange Y., Ye J., Rigney M., Steck T. Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles. J Biol Chem. 275:2000;17,468-17,475.
    • (2000) J Biol Chem , vol.275 , pp. 17
    • Lange, Y.1    Ye, J.2    Rigney, M.3    Steck, T.4
  • 18
    • 0023608155 scopus 로고
    • Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts
    • Liscum L., Faust J.R. Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J Biol Chem. 262:1987;17,002-17,008.
    • (1987) J Biol Chem , vol.262 , pp. 17
    • Liscum, L.1    Faust, J.R.2
  • 19
    • 0034988887 scopus 로고    scopus 로고
    • Depletion of membrane rafts in late endocytic membranes is controlled by NPC1-dependent recycling of cholesterol to the plasma membrane
    • Lusa S., Blom T.S., Eskelinen ELet al. Depletion of membrane 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    Blom, T.S.2    Eskelinen, E.-A.3
  • 20
    • 0034623958 scopus 로고    scopus 로고
    • NPC1 overexpression alters cellular cholesterol homeostasis
    • Millard E.E., Srivastava K., Traub Let al. NPC1 overexpression alters cellular cholesterol homeostasis. J Biol Chem. 275:2000;38,445-38,451.
    • (2000) J Biol Chem , vol.275 , pp. 38
    • Millard, E.E.1    Srivastava, K.2    Traub, L.-A.3
  • 21
    • 0034704245 scopus 로고    scopus 로고
    • Identification of HE1 as the second disease gene of Niemann-Pick C disease
    • Naureckiene S., Sleat D.E., Lackland Het al. Identification of HE1 as the second disease gene of Niemann-Pick C disease. Science. 290:2000;2298-2301.
    • (2000) Science , vol.290 , pp. 2298-2301
    • Naureckiene, S.1    Sleat, D.E.2    Lackland, H.-A.3
  • 22
    • 0029829903 scopus 로고    scopus 로고
    • Intracellular trafficking of cholesterol monitored with a cyclodextrin
    • Neufeld E.B., Cooney A.M., Pitha Jet al. Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem. 271:1996;21,604-21,613.
    • (1996) J Biol Chem , vol.271 , pp. 21
    • Neufeld, E.B.1    Cooney, A.M.2    Pitha, J.-A.3
  • 23
    • 0033515560 scopus 로고    scopus 로고
    • The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
    • Neufeld E.B., Wastney M., Patel Set al. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem. 274:1999;9627-9635.
    • (1999) J Biol Chem , vol.274 , pp. 9627-9635
    • Neufeld, E.B.1    Wastney, M.2    Patel, S.-A.3
  • 24
    • 0034672696 scopus 로고    scopus 로고
    • Niemann-Pick type C disease: A disorder of cellular cholesterol trafficking
    • Ory D.S. Niemann-Pick type C disease: a disorder of cellular cholesterol trafficking. Biochim Biophys Acta. 1529:2000;331-339.
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 331-339
    • Ory, D.S.1
  • 25
    • 0000721551 scopus 로고
    • A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
    • Pentchev P.G., Comly M.E., Kruth HSet al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci. 82:1985;8247-8251.
    • (1985) Proc Natl Acad Sci , vol.82 , pp. 8247-8251
    • Pentchev, P.G.1    Comly, M.E.2    Kruth, H.-A.3
  • 26
    • 0034671509 scopus 로고    scopus 로고
    • Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia
    • Repa J.J., Lund E.G., Horton JDet al. Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. J Biol Chem. 275:2000;39,685-39,692.
    • (2000) J Biol Chem , vol.275 , pp. 39
    • Repa, J.J.1    Lund, E.G.2    Horton, J.-A.3
  • 27
    • 0033552883 scopus 로고    scopus 로고
    • Atherosclerosis - An inflammatory disease
    • Ross R. Atherosclerosis - an inflammatory disease. N Engl J Med. 340:1999;115-126.
    • (1999) N Engl J Med , vol.340 , pp. 115-126
    • Ross, R.1
  • 28
    • 0034672672 scopus 로고    scopus 로고
    • Oxysterol biosynthetic enzymes
    • Russell D.W. Oxysterol biosynthetic enzymes. Biochim Biophys Acta. 1529:2000;126-135.
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 126-135
    • Russell, D.W.1
  • 29
    • 0037245750 scopus 로고    scopus 로고
    • Accelerated degradation of HMG CoA reductase mediated by binding of Insig-1 to Its sterol-sensing domain
    • Sever N., Yang T., Brown MSet al. Accelerated degradation of HMG CoA reductase mediated by binding of Insig-1 to Its sterol-sensing domain. Mol Cell. 11:2003;25-33.
    • (2003) Mol Cell , vol.11 , pp. 25-33
    • Sever, N.1    Yang, T.2    Brown, M.-A.3
  • 30
    • 0029845517 scopus 로고    scopus 로고
    • Co-cultivation of Niemann-Pick type C fibroblasts belonging to complementation groups α and β stimulates LDL-derived cholesterol esterification
    • Steinberg S.J., Mondal D., Fensom A.H. Co-cultivation of Niemann-Pick type C fibroblasts belonging to complementation groups α and β stimulates LDL-derived cholesterol esterification. J Inherit Metab Dis. 19:1996;769-774.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 769-774
    • Steinberg, S.J.1    Mondal, D.2    Fensom, A.H.3
  • 31
    • 0032512758 scopus 로고    scopus 로고
    • Evidence for a cholesterol transport pathway from lysosomes to endoplasmic reticulum that is independent of the plasma membrane
    • Underwood K.W., Jacobs N.L., Howley A., Liscum L. Evidence for a cholesterol transport pathway from lysosomes to endoplasmic reticulum that is independent of the plasma membrane. J Biol Chem. 273:1998;4266-4274.
    • (1998) J Biol Chem , vol.273 , pp. 4266-4274
    • Underwood, K.W.1    Jacobs, N.L.2    Howley, A.3    Liscum, L.4
  • 32
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
    • Vanier M.T., Duthel S., Rodriguez-Lafrasse Cet al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet. 58:1996;118-125.
    • (1996) Am J Hum Genet , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez-Lafrasse, C.-A.3
  • 33
    • 0033514298 scopus 로고    scopus 로고
    • Niemann-Pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization
    • Watari H., Blanchette-Mackie E.J., Dwyer NKet al. Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc Natl Acad Sci. 96:1999;805-810.
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 805-810
    • Watari, H.1    Blanchette-Mackie, E.J.2    Dwyer, N.-A.3
  • 34
    • 0034714439 scopus 로고    scopus 로고
    • Determinants of NPC1 expression and action: Key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop
    • Watari H., Blanchette-Mackie E.J., Dwyer NKet al. Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop. Exp Cell Res. 259:2000;247-256.
    • (2000) Exp Cell Res , vol.259 , pp. 247-256
    • Watari, H.1    Blanchette-Mackie, E.J.2    Dwyer, N.-A.3
  • 35
    • 0031955904 scopus 로고    scopus 로고
    • Sterol 27-hydroxylase- and apoAI/phospholipid-mediated efflux of cholesterol from cholesterol-laden macrophages
    • Westman J., Kallin B., Bjorkhem Iet al. Sterol 27-hydroxylase- and apoAI/phospholipid-mediated efflux of cholesterol from cholesterol-laden macrophages. Arterioscler Thromb Vasc Biol. 18:1998;554-561.
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 554-561
    • Westman, J.1    Kallin, B.2    Bjorkhem, I.-A.3
  • 36
    • 0038158091 scopus 로고    scopus 로고
    • The transport of LDL-derived cholesterol to the plasma membrane is defective in NPC1 cells
    • Wojtanik K.M., Liscum L. The transport of LDL-derived cholesterol to the plasma membrane is defective in NPC1 cells. J Biol Chem. 278:2003;14,850-14,856.
    • (2003) J Biol Chem , vol.278 , pp. 14
    • Wojtanik, K.M.1    Liscum, L.2
  • 37
    • 0033049909 scopus 로고    scopus 로고
    • Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein
    • Xie C., Turley S.D., Pentchev P.G., Dietschy J.M. Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein. Am J Physiol. 276:1999;E336-3E44.
    • (1999) Am J Physiol , vol.276
    • Xie, C.1    Turley, S.D.2    Pentchev, P.G.3    Dietschy, J.M.4
  • 38
    • 0037162719 scopus 로고    scopus 로고
    • Crucial step in cholesterol homeostasis: Sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER
    • Yang T., Espenshade P.J., Wright MEet al. Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER. Cell. 110:2002;489-500.
    • (2002) Cell , vol.110 , pp. 489-500
    • Yang, T.1    Espenshade, P.J.2    Wright, M.-A.3
  • 39
    • 1542745605 scopus 로고    scopus 로고
    • The steroidal analog GW707 activates the SREBP pathway through disruption of intracellular cholesterol trafficking
    • in press
    • Zhang J., Dudley-Rucker N., Crowley Jet al. The steroidal analog GW707 activates the SREBP pathway through disruption of intracellular cholesterol trafficking. J Lipid Res. 2003;. in press.
    • (2003) J Lipid Res
    • Zhang, J.1    Dudley-Rucker, N.2    Crowley, J.-A.3
  • 40
    • 0035793562 scopus 로고    scopus 로고
    • Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes
    • Zhang M., Dwyer N., Neufeld EBet al. Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes. J Biol Chem. 276:2001a;3417-3425.
    • (2001) J Biol Chem , vol.276 , pp. 3417-3425
    • Zhang, M.1    Dwyer, N.2    Neufeld, E.-A.3
  • 41
    • 0035836635 scopus 로고    scopus 로고
    • Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C disease
    • Zhang M., Dwyer N.K., Love DCet al. Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C disease. Proc Natl Acad Sci. 98:2001b;4466-4471.
    • (2001) Proc Natl Acad Sci , vol.98 , pp. 4466-4471
    • Zhang, M.1    Dwyer, N.K.2    Love, D.-A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.