-
1
-
-
0023666162
-
Niemann-Pick disease 1914-1986. Review of the development of the present state of knowledge
-
Elleder M : [Niemann-Pick disease, 1914-1986. Review of the development of the present state of knowledge] . Cas Lek Cesk 1987 ; 126 : 393-398 .
-
(1987)
Cas Lek Cesk
, vol.126
, pp. 393-398
-
-
Elleder, M.1
-
2
-
-
20444396178
-
Niemann-Pick type C disease and intracellular cholesterol trafficking
-
Chang TY , Reid PC , Sugii S , Ohgami N , Cruz JC , Chang CC : Niemann-Pick type C disease and intracellular cholesterol trafficking . J Biol Chem 2005 ; 280 : 20917-20920 .
-
(2005)
J Biol Chem
, vol.280
, pp. 20917-20920
-
-
Chang, T.Y.1
Reid, P.C.2
Sugii, S.3
Ohgami, N.4
Cruz, J.C.5
Chang, C.C.6
-
3
-
-
33749234799
-
Lipid imbalance in the neurological disorder, Niemann-Pick C disease
-
Vance JE : Lipid imbalance in the neurological disorder, Niemann-Pick C disease . FEBS Lett 2006 ; 580 : 5518-5524 .
-
(2006)
FEBS Lett
, vol.580
, pp. 5518-5524
-
-
Vance, J.E.1
-
4
-
-
18844434620
-
Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice
-
Karten B , Hayashi H , Francis GA , Campenot RB , Vance DE , Vance JE : Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice . Biochem J 2005 ; 387 : 779-788 .
-
(2005)
Biochem J
, vol.387
, pp. 779-788
-
-
Karten, B.1
Hayashi, H.2
Francis, G.A.3
Campenot, R.B.4
Vance, D.E.5
Vance, J.E.6
-
5
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
DOI 10.1126/science.277.5323.228
-
Carstea ED , Morris JA , Coleman KG , Loftus SK , Zhang D, Cummings C, e t al. : Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis . Science 1997 ; 277 : 228-231 . (Pubitemid 27446076)
-
(1997)
Science
, vol.277
, Issue.5323
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
Cummings, C.6
Gu, J.7
Rosenfeld, M.A.8
Pavan, W.J.9
Krizman, D.B.10
Nagle, J.11
Polymeropoulos, M.H.12
Sturley, S.L.13
Ioannou, Y.A.14
Higgins, M.E.15
Comly, M.16
Cooney, A.17
Brown, A.18
Kaneski, C.R.19
Blanchette-Mackie, E.J.20
Dwyer, N.K.21
Neufeld, E.B.22
Chang, T.-Y.23
Liscum, L.24
Strauss III, J.F.25
Ohno, K.26
Zeigler, M.27
Carmi, R.28
Sokol, J.29
Markie, D.30
O'Neill, R.R.31
Van Diggelen, O.P.32
Elleder, M.33
Patterson, M.C.34
Brady, R.O.35
Vanier, M.T.36
Pentchev, P.G.37
Tagle, D.A.38
more..
-
6
-
-
0028330236
-
Complementation studies in Niemann- Pick disease type C indicate the existence of a second group
-
Steinberg SJ , Ward CP , Fensom AH : Complementation studies in Niemann- Pick disease type C indicate the existence of a second group . J Med Genet 1994 ; 31 : 317-320 .
-
(1994)
J Med Genet
, vol.31
, pp. 317-320
-
-
Steinberg, S.J.1
Ward, C.P.2
Fensom, A.H.3
-
7
-
-
0029655528
-
Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
-
Vanier MT , Duthel S , Rodriguez-Lafrasse C , Pentchev P , Carstea ED : Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis . Am J Hum Genet 1996 ; 58 : 118-125 .
-
(1996)
Am J Hum Genet
, vol.58
, pp. 118-125
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Lafrasse, C.3
Pentchev, P.4
Carstea, E.D.5
-
8
-
-
0026409287
-
Type C Niemann-Pick disease: Biochemical aspects and phenotypic heterogeneity
-
Vanier MT , Rodriguez-Lafrasse C , Rousson R , Duthel S , Harzer K , Pentchev PG , et al .: Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity . Dev Neurosci 1991 ; 13 : 307-314 .
-
(1991)
Dev Neurosci
, vol.13
, pp. 307-314
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Duthel, S.4
Harzer, K.5
Pentchev, P.G.6
-
9
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene S , Sleat DE , Lackland H , Fensom A , Vanier MT, Wattiaux R, e t al. : Identification of HE1 as the second gene of Niemann-Pick C disease . Science 2000 ; 290 : 2298-2301 .
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
Sleat, D.E.2
Lackland, H.3
Fensom, A.4
Vanier, M.T.5
Wattiaux, R.6
-
10
-
-
33244458202
-
Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells
-
Pipalia NH , Huang A , Ralph H , Rujoi M , Maxfield FR : Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells . J Lipid Res 2006 ; 47 : 284-301 .
-
(2006)
J Lipid Res
, vol.47
, pp. 284-301
-
-
Pipalia, N.H.1
Huang, A.2
Ralph, H.3
Rujoi, M.4
Maxfield, F.R.5
-
11
-
-
67549105629
-
Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol
-
Kwon HJ , Abi-Mosleh L , Wang ML , Deisenhofer J , Goldstein JL , Brown MS , et al .: Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol . Cell 2009 ; 137 : 1213-1224 .
-
(2009)
Cell
, vol.137
, pp. 1213-1224
-
-
Kwon, H.J.1
Abi-Mosleh, L.2
Wang, M.L.3
Deisenhofer, J.4
Goldstein, J.L.5
Brown, M.S.6
-
12
-
-
0036793407
-
Identification of a pharmaceutical compound that partially corrects the Niemann-Pick C phenotype in cultured cells
-
Liscum L, Arnio E, Anthony M, Howley A, Sturley SL, Agler M : Identification of a pharmaceutical compound that partially corrects the Niemann-Pick C phenotype in cultured cells . J Lipid Res 2002 ; 43 : 1708-1717 .
-
(2002)
J Lipid Res
, vol.43
, pp. 1708-1717
-
-
Liscum, L.1
Arnio, E.2
Anthony, M.3
Howley, A.4
Sturley, S.L.5
Agler, M.6
-
13
-
-
67650085633
-
Synthetic lethal RNAi screening identifies sensitizing targets for gemcitabine therapy in pancreatic cancer
-
Azorsa DO, Gonzales IM, Basu GD, Choudhary A, Arora S, Bisanz K M, e t al. : Synthetic lethal RNAi screening identifies sensitizing targets for gemcitabine therapy in pancreatic cancer . J Transl Med 2009 ; 7 : 43 .
-
(2009)
J Transl Med
, vol.7
, pp. 43
-
-
Azorsa, D.O.1
Gonzales, I.M.2
Basu, G.D.3
Choudhary, A.4
Arora, S.5
Bisanz, K.M.6
-
14
-
-
0033003760
-
A Simple statistical parameter for use in evaluation and validation of high throughput screening assays
-
Zhang JH , Chung TD , Oldenburg KR : A Simple Statistical Parameter for Use in Evaluation and Validation of High Throughput Screening Assays . J Biomol Screen 1999 ; 4 : 67-73 .
-
(1999)
J Biomol Screen
, vol.4
, pp. 67-73
-
-
Zhang, J.H.1
Chung, T.D.2
Oldenburg, K.R.3
-
15
-
-
0034255474
-
Characteristics of a novel deep red/infrared fluorescent cell-permeant DNA probe, DRAQ5, in intact human cells analyzed by flow cytometry, confocal and multiphoton microscopy
-
Smith PJ, Blunt N, Wiltshire M, Hoy T, Teesdale-Spittle P, Craven MR, e t al. : Characteristics of a novel deep red/infrared fluorescent cell-permeant DNA probe, DRAQ5, in intact human cells analyzed by flow cytometry, confocal and multiphoton microscopy . Cytometry 2000 ; 40 : 280-291 .
-
(2000)
Cytometry
, vol.40
, pp. 280-291
-
-
Smith, P.J.1
Blunt, N.2
Wiltshire, M.3
Hoy, T.4
Teesdale-Spittle, P.5
Craven, M.R.6
-
16
-
-
67649424755
-
Identification of cholesterol- regulating genes by targeted RNAi screening
-
Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, e t al. : Identification of cholesterol- regulating genes by targeted RNAi screening . Cell Metab 2009 ; 10 : 63-75 .
-
(2009)
Cell Metab
, vol.10
, pp. 63-75
-
-
Bartz, F.1
Kern, L.2
Erz, D.3
Zhu, M.4
Gilbert, D.5
Meinhof, T.6
-
17
-
-
1242342248
-
The steroidal analog GW707 activates the SREBP pathway through disruption of intracellular cholesterol trafficking
-
Zhang J , Dudley-Rucker N , Crowley JR , Lopez-Perez E , Issandou M , Schaffer JE , et al .: The steroidal analog GW707 activates the SREBP pathway through disruption of intracellular cholesterol trafficking . J Lipid Res 2004 ; 45 : 223-231 .
-
(2004)
J Lipid Res
, vol.45
, pp. 223-231
-
-
Zhang, J.1
Dudley-Rucker, N.2
Crowley, J.R.3
Lopez-Perez, E.4
Issandou, M.5
Schaffer, J.E.6
-
18
-
-
67649652050
-
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients
-
Rodríguez-Pascau L , Gort L , Schuchman EH , Vilageliu L , Grinberg D , Chabás A : Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients . Hum Mutat 2009 ; 30 : 1117-1122 .
-
(2009)
Hum Mutat
, vol.30
, pp. 1117-1122
-
-
Rodríguez-Pascau, L.1
Gort, L.2
Schuchman, E.H.3
Vilageliu, L.4
Grinberg, D.5
Chabás, A.6
-
19
-
-
0027512555
-
Linkage of Niemann-Pick disease type C to human chromosome 18
-
Carstea ED , Polymeropoulos MH , Parker CC , Detera-Wadleigh SD , O'Neill RR , Patterson MC , et al .: Linkage of Niemann-Pick disease type C to human chromosome 18 . Proc Natl Acad Sci USA 1993 ; 90 : 2002-2004 .
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2002-2004
-
-
Carstea, E.D.1
Polymeropoulos, M.H.2
Parker, C.C.3
Detera-Wadleigh, S.D.4
O'Neill, R.R.5
Patterson, M.C.6
-
20
-
-
54349098469
-
Regulation of sterol transport between membranes and NPC2
-
Xu Z , Farver W , Kodukula S , Storch J : Regulation of sterol transport between membranes and NPC2 . Biochemistry 2008 ; 47 : 11134-11143 .
-
(2008)
Biochemistry
, vol.47
, pp. 11134-11143
-
-
Xu, Z.1
Farver, W.2
Kodukula, S.3
Storch, J.4
-
21
-
-
34548192003
-
Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease
-
Xu S , Benoff B , Liou HL , Lobel P , Stock AM : Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease . J Biol Chem 2007 ; 282 : 23525-23531 .
-
(2007)
J Biol Chem
, vol.282
, pp. 23525-23531
-
-
Xu, S.1
Benoff, B.2
Liou, H.L.3
Lobel, P.4
Stock, A.M.5
-
22
-
-
16844376244
-
Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia
-
Davies JP , Scott C , Oishi K , Liapis A , Ioannou YA : Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia . J Biol Chem 2005 ; 280 : 12710-12720 .
-
(2005)
J Biol Chem
, vol.280
, pp. 12710-12720
-
-
Davies, J.P.1
Scott, C.2
Oishi, K.3
Liapis, A.4
Ioannou, Y.A.5
-
23
-
-
0034655917
-
Evidence for a Niemann-pick C (NPC) gene family: Identification and characterization of NPC1L1
-
Davies JP , Levy B , Ioannou YA : Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1 . Genomics 2000 ; 65 : 137-145 .
-
(2000)
Genomics
, vol.65
, pp. 137-145
-
-
Davies, J.P.1
Levy, B.2
Ioannou, Y.A.3
-
24
-
-
10744221008
-
Niemann- Pick C1 Like 1 protein is critical for intestinal cholesterol absorption
-
Altmann SW , Davis HR , Jr , Zhu LJ , Yao X , Hoos LM , Tetzloff G , et al .: Niemann- Pick C1 Like 1 protein is critical for intestinal cholesterol absorption . Science 2004 ; 303 : 1201-1204 .
-
(2004)
Science
, vol.303
, pp. 1201-1204
-
-
Altmann, S.W.1
Davis, H.R.2
Zhu Jr., L.J.3
Yao, X.4
Hoos, L.M.5
Tetzloff, G.6
-
25
-
-
0033959686
-
Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice
-
Erickson RP , Garver WS , Camargo F , Hossain GS , Heidenreich RA : Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice . J Inherit Metab Dis 2000 ; 23 : 54-62 .
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 54-62
-
-
Erickson, R.P.1
Garver, W.S.2
Camargo, F.3
Hossain, G.S.4
Heidenreich, R.A.5
-
26
-
-
22544485069
-
Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet
-
Erickson RP , Bhattacharyya A , Hunter RJ , Heidenreich RA , Cherrington NJ : Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet . Am J Physiol Gastrointest Liver Physiol 2005 ; 289 : G300-G307 .
-
(2005)
Am J Physiol Gastrointest Liver Physiol
, vol.289
-
-
Erickson, R.P.1
Bhattacharyya, A.2
Hunter, R.J.3
Heidenreich, R.A.4
Cherrington, N.J.5
-
27
-
-
0141876961
-
Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes
-
Walter M , Davies JP , Ioannou YA : Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes . J Lipid Res 2003 ; 44 : 243-253 .
-
(2003)
J Lipid Res
, vol.44
, pp. 243-253
-
-
Walter, M.1
Davies, J.P.2
Ioannou, Y.A.3
-
28
-
-
60049091317
-
Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment
-
Walter M , Chen FW , Tamari F , Wang R , Ioannou YA : Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment . Biol Cell 2009 ; 101 : 141-152 .
-
(2009)
Biol Cell
, vol.101
, pp. 141-152
-
-
Walter, M.1
Chen, F.W.2
Tamari, F.3
Wang, R.4
Ioannou, Y.A.5
-
29
-
-
24644494640
-
Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage
-
Narita K, Choudhury A, Dobrenis K, Sharma DK, Holicky EL, Marks DL, e t al. : Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage . FASEB J 2005 ; 19 : 1558-1560 .
-
(2005)
FASEB J
, vol.19
, pp. 1558-1560
-
-
Narita, K.1
Choudhury, A.2
Dobrenis, K.3
Sharma, D.K.4
Holicky, E.L.5
Marks, D.L.6
-
30
-
-
33745846377
-
Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells
-
Ganley IG , Pfeffer SR : Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells . J Biol Chem 2006 ; 281 : 17890-17899 .
-
(2006)
J Biol Chem
, vol.281
, pp. 17890-17899
-
-
Ganley, I.G.1
Pfeffer, S.R.2
-
31
-
-
0030737565
-
MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis
-
Watari H , Arakane F , Moog-Lutz C , Kallen CB , Tomasetto C , Gerton GL , et al .: MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis . Proc Natl Acad Sci USA 1997 ; 94 : 8462-8467 .
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 8462-8467
-
-
Watari, H.1
Arakane, F.2
Moog-Lutz, C.3
Kallen, C.B.4
Tomasetto, C.5
Gerton, G.L.6
-
32
-
-
33745472965
-
MLN64 and MENTHO, two mediators of endosomal cholesterol transport
-
Alpy F , Tomasetto C : MLN64 and MENTHO, two mediators of endosomal cholesterol transport . Biochem Soc Trans 2006 ; 34 : 343-345 .
-
(2006)
Biochem Soc Trans
, vol.34
, pp. 343-345
-
-
Alpy, F.1
Tomasetto, C.2
-
33
-
-
23744478870
-
Give lipids a START: The StAR-related lipid transfer (START) domain in mammals
-
Alpy F , Tomasetto C : Give lipids a START: the StAR-related lipid transfer (START) domain in mammals . J Cell Sci 2005 ; 118 : 2791-2801 .
-
(2005)
J Cell Sci
, vol.118
, pp. 2791-2801
-
-
Alpy, F.1
Tomasetto, C.2
-
34
-
-
33646019237
-
Regulation of human STARD4 gene expression under endoplasmic reticulum stress
-
Yamada S , Yamaguchi T , Hosoda A , Iwawaki T , Kohno K : Regulation of human STARD4 gene expression under endoplasmic reticulum stress . Biochem Biophys Res Commun 2006 ; 343 : 1079-1085 .
-
(2006)
Biochem Biophys Res Commun
, vol.343
, pp. 1079-1085
-
-
Yamada, S.1
Yamaguchi, T.2
Hosoda, A.3
Iwawaki, T.4
Kohno, K.5
-
35
-
-
0037076275
-
The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6
-
Soccio RE , Adams RM , Romanowski MJ , Sehayek E , Burley SK , Breslow JL : The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6 . Proc Natl Acad Sci USA 2002 ; 99 : 6943-6948 .
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 6943-6948
-
-
Soccio, R.E.1
Adams, R.M.2
Romanowski, M.J.3
Sehayek, E.4
Burley, S.K.5
Breslow, J.L.6
-
36
-
-
21444455252
-
Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins. Activation of StarD4 by sterol regulatory element-binding protein-2 and StarD5 by endoplasmic reticulum stress
-
Soccio RE , Adams RM , Maxwell KN , Breslow JL : Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins. Activation of StarD4 by sterol regulatory element-binding protein-2 and StarD5 by endoplasmic reticulum stress . J Biol Chem 2005 ; 280 : 19410-19418 .
-
(2005)
J Biol Chem
, vol.280
, pp. 19410-19418
-
-
Soccio, R.E.1
Adams, R.M.2
Maxwell, K.N.3
Breslow, J.L.4
-
37
-
-
0028892298
-
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X
-
Schuchman EH : Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X . Hum Mutat 1995 ; 6 : 352-354 .
-
(1995)
Hum Mutat
, vol.6
, pp. 352-354
-
-
Schuchman, E.H.1
-
38
-
-
0344643423
-
Human acid sphingomyelinase
-
Lansmann S , Schuette CG , Bartelsen O , Hoernschemeyer J , Linke T , Weisgerber J , et al .: Human acid sphingomyelinase . Eur J Biochem 2003 ; 270 : 1076-1088 .
-
(2003)
Eur J Biochem
, vol.270
, pp. 1076-1088
-
-
Lansmann, S.1
Schuette, C.G.2
Bartelsen, O.3
Hoernschemeyer, J.4
Linke, T.5
Weisgerber, J.6
-
39
-
-
22344443961
-
Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes
-
Pérez-Morga D , Vanhollebeke B , Paturiaux-Hanocq F , Nolan DP , Lins L , Homblé F , et al .: Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes . Science 2005 ; 309 : 469-472 .
-
(2005)
Science
, vol.309
, pp. 469-472
-
-
Pérez-Morga, D.1
Vanhollebeke, B.2
Paturiaux-Hanocq, F.3
Nolan, D.P.4
Lins, L.5
Homblé, F.6
-
40
-
-
0030868848
-
Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L
-
Duchateau PN , Pullinger CR , Orellana RE , Kunitake ST , Naya-Vigne J , O'Connor PM , et al .: Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L . J Biol Chem 1997 ; 272 : 25576-25582 .
-
(1997)
J Biol Chem
, vol.272
, pp. 25576-25582
-
-
Duchateau, P.N.1
Pullinger, C.R.2
Orellana, R.E.3
Kunitake, S.T.4
Naya-Vigne, J.5
O'Connor, P.M.6
|