-
1
-
-
0000831301
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|