-
1
-
-
15944389528
-
Cholesterol homeostasis in neurons and glial cells
-
Vance JE, Hayashi H, Karten B (2005) Cholesterol homeostasis in neurons and glial cells. Semin Cell Dev Biol 16, 193-212.
-
(2005)
Semin Cell Dev Biol
, vol.16
, pp. 193-212
-
-
Vance, J.E.1
Hayashi, H.2
Karten, B.3
-
2
-
-
67649275699
-
Mechanisms and consequences of impaired lipid trafficking in NiemannPick type C1deficient mammalian cells
-
Karten B, Peake KB, Vance JE (2009) Mechanisms and consequences of impaired lipid trafficking in NiemannPick type C1deficient mammalian cells. Biochim Biophys Acta 1791, 659-670.
-
(2009)
Biochim Biophys Acta
, vol.1791
, pp. 659-670
-
-
Karten, B.1
Peake, K.B.2
Vance, J.E.3
-
3
-
-
0033515560
-
The NiemannPick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
-
Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss III JF, Vanier MT, Patterson MC, Brady RO, Pentchev PG, BlanchetteMackie EJ (1999) The NiemannPick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem 274, 9627-9635.
-
(1999)
J Biol Chem
, vol.274
, pp. 9627-9635
-
-
Neufeld, E.B.1
Wastney, M.2
Patel, S.3
Suresh, S.4
Cooney, A.M.5
Dwyer, N.K.6
Roff, C.F.7
Ohno, K.8
Morris, J.A.9
Carstea, E.D.10
Incardona, J.P.11
Strauss III, J.F.12
Vanier, M.T.13
Patterson, M.C.14
Brady, R.O.15
Pentchev, P.G.16
BlanchetteMackie, E.J.17
-
4
-
-
2442444286
-
TheABCA1 transporter modulates late endocytic trafficking: Insights from the correction of the genetic defect in Tangier disease
-
Neufeld EB, Stonik JA, Demosky Jr SJ, Knapper CL, Combs CA, Cooney A, Comly M, Dwyer N, BlanchetteMackie J, Remaley AT, SantamarinaFojo S, Brewer HB (2004) TheABCA1 transporter modulates late endocytic trafficking: Insights from the correction of the genetic defect in Tangier disease. J Biol Chem 279, 15571-15578.
-
(2004)
J Biol Chem
, vol.279
, pp. 15571-15578
-
-
Neufeld, E.B.1
Stonik, J.A.2
Demosky Jr., S.J.3
Knapper, C.L.4
Combs, C.A.5
Cooney, A.6
Comly, M.7
Dwyer, N.8
BlanchetteMackie, J.9
Remaley, A.T.10
SantamarinaFojo, S.11
Brewer, H.B.12
-
5
-
-
70349558522
-
Genomewide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
-
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan A.R, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A,Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H,McQuillin A, Gwilliam R, Deloukas P, AlChalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2009) Genomewide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41, 1088-1093.
-
(2009)
Nat Genet
, vol.41
, pp. 1088-1093
-
-
Harold, D.1
Abraham, R.2
Hollingworth, P.3
Sims, R.4
Gerrish, A.5
Hamshere, M.L.6
Pahwa, J.S.7
Moskvina, V.8
Dowzell, K.9
Williams, A.10
Jones, N.11
Thomas, C.12
Stretton, A.13
Morgan, A..R.14
Lovestone, S.15
Powell, J.16
Proitsi, P.17
Lupton, M.K.18
Brayne, C.19
Rubinsztein, D.C.20
Gill, M.21
Lawlor, B.22
Lynch, A.23
Morgan, K.24
Brown, K.S.25
Passmore, P.A.26
Craig, D.27
McGuinness, B.28
Todd, S.29
Holmes, C.30
Mann, D.31
Smith, A.D.32
Love, S.33
Kehoe, P.G.34
Hardy, J.35
Mead, S.36
Fox, N.37
Rossor, M.38
Collinge, J.39
Maier, W.40
Jessen, F.41
Schürmann, B.42
Van den Bussche, H.43
Heuser, I.44
Kornhuber, J.45
Wiltfang, J.46
Dichgans, M.47
Frölich, L.48
Hampel, H.49
Hüll, M.50
Rujescu, D.51
Goate, A.M.52
Kauwe, J.S.53
Cruchaga, C.54
Nowotny, P.55
Morris, J.C.56
Mayo, K.57
Sleegers, K.58
Bettens, K.59
Engelborghs, S.60
De Deyn, P.P.61
Van Broeckhoven, C.62
Livingston, G.63
Bass, N.J.64
Gurling, H.65
McQuillin, A.66
Gwilliam, R.67
Deloukas, P.68
AlChalabi, A.69
Shaw, C.E.70
Tsolaki, M.71
Singleton, A.B.72
Guerreiro, R.73
Mühleisen, T.W.74
Nöthen, M.M.75
Moebus, S.76
Jöckel, K.H.77
Klopp, N.78
Wichmann, H.E.79
Carrasquillo, M.M.80
Pankratz, V.S.81
Younkin, S.G.82
Holmans, P.A.83
O'Donovan, M.84
Owen, M.J.85
Williams, J.86
more..
-
6
-
-
78549264026
-
Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
-
European Alzheimer's Disease Initiative Investigators
-
Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, BarbergerGateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P (2009) Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 41, 1094-1099.
-
(2009)
Nat Genet
, vol.41
, pp. 1094-1099
-
-
Lambert, J.C.1
Heath, S.2
Even, G.3
Campion, D.4
Sleegers, K.5
Hiltunen, M.6
Combarros, O.7
Zelenika, D.8
Bullido, M.J.9
Tavernier, B.10
Letenneur, L.11
Bettens, K.12
Berr, C.13
Pasquier, F.14
Fiévet, N.15
Barberger-Gateau, P.16
Engelborghs, S.17
De Deyn, P.18
Mateo, I.19
Franck, A.20
Helisalmi, S.21
Porcellini, E.22
Hanon, O.23
De Pancorbo, M.M.24
Lendon, C.25
Dufouil, C.26
Jaillard, C.27
Leveillard, T.28
Alvarez, V.29
Bosco, P.30
Mancuso, M.31
Panza, F.32
Nacmias, B.33
Bossù, P.34
Piccardi, P.35
Annoni, G.36
Seripa D Galimberti D Hannequin, D.37
Licastro, F.38
Soininen, H.39
Ritchie, K.40
Blanché, H.41
Dartigues, J.F.42
Tzourio, C.43
Gut, I.44
Van Broeckhoven, C.45
Alpérovitch, A.46
Lathrop, M.47
Amouyel, P.48
more..
-
7
-
-
84954358712
-
Variation in NPC1, the gene encoding NiemannPick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population
-
Erickson RP, LarsonThom é K, Weberg L, Szybinska A, Mossakowska M, Styczynska M, Barcikowska M, Kuznicki J (2008) Variation in NPC1, the gene encoding NiemannPick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population. Neurosci Lett 447, 153-157.
-
(2008)
Neurosci Lett
, vol.447
, pp. 153-157
-
-
Erickson, R.P.1
LarsonThomé, K.2
Weberg, L.3
Szybinska, A.4
Mossakowska, M.5
Styczynska, M.6
Barcikowska, M.7
Kuznicki, J.8
-
8
-
-
11144357626
-
Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to βamyloid metabolism
-
Katzov H, Chalmers K, Palmgren J, Andreasen N, Johansson B, Cairns NJ, Gatz M, Wilcock GK, Love S, Pedersen NL, Brookes AJ, Blennow K, Kehoe PG, Prince JA (2004) Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to βamyloid metabolism. Hum-Mutat 23, 358-367.
-
(2004)
Hum-Mutat
, vol.23
, pp. 358-367
-
-
Katzov, H.1
Chalmers, K.2
Palmgren, J.3
Andreasen, N.4
Johansson, B.5
Cairns, N.J.6
Gatz, M.7
Wilcock, G.K.8
Love, S.9
Pedersen, N.L.10
Brookes, A.J.11
Blennow, K.12
Kehoe, P.G.13
Prince, J.A.14
-
9
-
-
35148898726
-
Association of genetic variants of ABCA1 with Alzheimer's disease risk
-
RodríguezRodríguez E,Mateo I, Llorca J, SánchezQuintana C, Infante J, GarcíaGorostiaga I, SánchezJuan P, Berciano J, Combarros O (2007) Association of genetic variants of ABCA1 with Alzheimer's disease risk. Am J Med Genet 144B, 964-968.
-
(2007)
Am J Med Genet
, vol.144 B
, pp. 964-968
-
-
RodríguezRodríguez, E.1
Mateo, I.2
Llorca, J.3
SánchezQuintana, C.4
Infante, J.5
GarcíaGorostiaga, I.6
SánchezJuan, P.7
Berciano, J.8
Combarros, O.9
-
10
-
-
34247120141
-
Genderspecific association of ATPbinding cassette transporter 1 (ABCA1) polymorphisms with the risk of lateonset Alzheimer's disease
-
Sundar PD, FeingoldE,MinsterRL,DeKosky ST,KambohMI (2007) Genderspecific association of ATPbinding cassette transporter 1 (ABCA1) polymorphisms with the risk of lateonset Alzheimer's disease. Neurobiol Aging 28, 856-862.
-
(2007)
Neurobiol Aging
, vol.28
, pp. 856-862
-
-
Sundar, P.D.1
Feingold, E.2
Minster, R.L.3
De Kosky, S.T.4
Kamboh, M.I.5
-
11
-
-
33947329031
-
ABCA1 polymorphisms and Alzheimer's disease
-
Wavrant-De Vrièze F, Compton D, Womick M, Arepalli S, Adighibe O, Li P, PérezTur J, Hardy J (2007) ABCA1 polymorphisms and Alzheimer's disease. Neurosci Lett 416, 180-183.
-
(2007)
Neurosci Lett
, vol.416
, pp. 180-183
-
-
Wavrant-De Vrièze, F.1
Compton, D.2
Womick, M.3
Arepalli, S.4
Adighibe, O.5
Li, P.6
PérezTur, J.7
Hardy, J.8
-
12
-
-
69549130702
-
A survey of ABCA1 sequence variation confirms association with dementia
-
Reynolds CA, Hong MG, Eriksson UK, Blennow K, Bennet AM, Johansson B, Malmberg B, Berg S, Wiklund F, Gatz M, Pedersen NL, Prince JA (2009) A survey of ABCA1 sequence variation confirms association with dementia. Hum Mutat 30, 1348-1354.
-
(2009)
Hum Mutat
, vol.30
, pp. 1348-1354
-
-
Reynolds, C.A.1
Hong, M.G.2
Eriksson, U.K.3
Blennow, K.4
Bennet, A.M.5
Johansson, B.6
Malmberg, B.7
Berg, S.8
Wiklund, F.9
Gatz, M.10
Pedersen, N.L.11
Prince, J.A.12
-
13
-
-
67650470272
-
Epistasis in sporadic Alzheimer's disease
-
Combarros O, CortinaBorja M, Smith AD, Lehmann DJ (2009) Epistasis in sporadic Alzheimer's disease. Neurobiol Aging 30, 1333-1349.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1333-1349
-
-
Combarros, O.1
CortinaBorja, M.2
Smith, A.D.3
Lehmann, D.J.4
-
14
-
-
13244278285
-
Genotypic effect of the -565C >T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis
-
Kyriakou T, Hodgkinson C, Pontefract DE, Iyengar S, Howell WM, Wong Y, Eriksson P, Ye S (2005) Genotypic effect of the -565C >T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis. Arterioscler Thromb Vasc Biol 25, 418-423.
-
(2005)
Arterioscler Thromb Vasc Biol
, vol.25
, pp. 418-423
-
-
Kyriakou, T.1
Hodgkinson, C.2
Pontefract, D.E.3
Iyengar, S.4
Howell, W.M.5
Wong, Y.6
Eriksson, P.7
Ye, S.8
-
15
-
-
67649649934
-
Interaction between HMGCR and ABCA1 cholesterolrelated genes modulates Alzheimer's disease risk
-
RodríguezRodr íguez E, Mateo I, Infante J, Llorca J, GarcíaGorostiaga I, VázquezHiguera JL, SánchezJuan P, Berciano J, Combarros O (2009) Interaction between HMGCR and ABCA1 cholesterolrelated genes modulates Alzheimer's disease risk. Brain Res 1280, 166-171.
-
(2009)
Brain Res
, vol.1280
, pp. 166-171
-
-
RodríguezRodríguez, E.1
Mateo, I.2
Infante, J.3
Llorca, J.4
GarcíaGorostiaga, I.5
VázquezHiguera, J.L.6
SánchezJuan, P.7
Berciano, J.8
Combarros, O.9
-
16
-
-
0021271971
-
Clinical diagnosis of Alzheimer disease: Report of the NINCDSADRDA work group under the auspices of the department of health and human services task force on alzheimer disease
-
McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer disease: Report of the NINCDSADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer Disease. Neurology 24, 939-944.
-
(1984)
Neurology
, vol.24
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.3
Katzman, R.4
Price, D.5
Stadlan, E.M.6
-
18
-
-
30044438463
-
Lack of ABCA1 considerably decreases brain ApoE level and increases amyloid deposition in APP23 mice
-
Koldamova R, Staufenbiel M, Lefterov I (2005) Lack of ABCA1 considerably decreases brain ApoE level and increases amyloid deposition in APP23 mice. J Biol Chem 280, 43224-43235.
-
(2005)
J Biol Chem
, vol.280
, pp. 43224-43235
-
-
Koldamova, R.1
Staufenbiel, M.2
Lefterov, I.3
-
19
-
-
30044442937
-
Deletion of Abca1 increases Aβ deposition in the PDAPP transgenic mouse model of Alzheimer disease
-
DOI 10.1074/jbc.M508780200
-
Wahrle SE, Jiang H, Parsadanian M, Hartman RE, Bales KR, Paul SM, Holtzman DM (2005) Deletion of Abca1 increases Aβ deposition in the PDAPP transgenic mouse model of Alzheimer disease. J Biol Chem 280, 43236-43242. (Pubitemid 43049290)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.52
, pp. 43236-43242
-
-
Wahrle, S.E.1
Jiang, H.2
Parsadanian, M.3
Hartman, R.E.4
Bales, K.R.5
Paul, S.M.6
Holtzman, D.M.7
-
20
-
-
59149097625
-
Genomewide association study for earlyonset and morbid adult obesity identifies three new risk loci in European populations
-
Meyre D, Delplanque J, Chèvre JC, Lecoeur D, Lobbens S, Gallina S, Durand E, Vatin V, Degraeve F, Proença C, Gaget S, Körner A, Kovacs P, Kiess W, Tichet J, Marre M, Hartikainen AL, Horber F, Potoczna N, Hercberg S, LevyMarchal C, Pattou F, Heude B, Taubert M, McCarthy MI, Blakemore AIF, Montpetit A, Polychronakos C, Weill J, Coin LJM, Asher J, Elliott P, Järvelin MR, VisvikisSiest S, Balkau B, Sladek R, Balding D, Walley A, Dina C, Froguel P (2009) Genomewide association study for earlyonset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet 41, 157-159.
-
(2009)
Nat Genet
, vol.41
, pp. 157-159
-
-
Meyre, D.1
Delplanque, J.2
Chèvre, J.C.3
Lecoeur, D.4
Lobbens, S.5
Gallina, S.6
Durand, E.7
Vatin, V.8
Degraeve, F.9
Proença, C.10
Gaget, S.11
Körner, A.12
Kovacs, P.13
Kiess, W.14
Tichet, J.15
Marre, M.16
Hartikainen, A.L.17
Horber, F.18
Potoczna, N.19
Hercberg, S.20
Levy-Marchal, C.21
Pattou, F.22
Heude, B.23
Taubert, M.24
McCarthy, M.I.25
Blakemore, A.I.F.26
Montpetit, A.27
Polychronakos, C.28
Weill, J.29
Coin, L.J.M.30
Asher, J.31
Elliott, P.32
Järvelin, M.R.33
VisvikisSiest, S.34
Balkau, B.35
Sladek, R.36
Balding, D.37
Walley, A.38
Dina, C.39
Froguel, P.40
more..
-
22
-
-
0038701804
-
Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain
-
Distl R, TreiberHeld S,Albert F,MeskeV, Harzer K,OhmTG (2003)Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain. J Pathol 200,104-111.
-
(2003)
J Pathol
, vol.200
, pp. 104-111
-
-
Distl, R.1
Treiber-Held, S.2
Albert, F.3
Meske, V.4
Harzer, K.5
Ohm, T.G.6
-
23
-
-
0034925263
-
Tanglebearing neurons contain more free cholesterol than adjacent tanglefree neurons
-
Distl R, Meske V, Ohm TG (2001) Tanglebearing neurons contain more free cholesterol than adjacent tanglefree neurons. Acta Neuropatho. 101, 547-554.
-
(2001)
Acta Neuropatho.
, vol.101
, pp. 547-554
-
-
Distl, R.1
Meske, V.2
Ohm, T.G.3
-
24
-
-
0038045571
-
Presenilin redistribution associated with aberrant cholesterol transport enhances βamyloid production in vivo
-
Burns M, Gaynor K, Olm V, Mercken M, LaFrancois J,Wang L,Mathews PM, NobleW,Matsuoka Y, Duff K (2003) Presenilin redistribution associated with aberrant cholesterol transport enhances βamyloid production in vivo. J Neurosci 23, 5645-5649.
-
(2003)
J Neurosci
, vol.23
, pp. 5645-5649
-
-
Burns, M.1
Gaynor, K.2
Olm, V.3
Mercken, M.4
LaFrancois, J.5
Wang, L.6
Mathews, P.M.7
Noble, W.8
Matsuoka, Y.9
Duff, K.10
-
25
-
-
0041825673
-
Impaired ABCA1dependent lipid efflux and hypoalphalipoproteinemia in human NiemannPick type C disease
-
Choi HY, Karten B, Chan T, Vance JE, Greer WL, Heidenreich RA, Garver WS, Francis GA (2003) Impaired ABCA1dependent lipid efflux and hypoalphalipoproteinemia in human NiemannPick type C disease. J Biol Chem 278, 32569-32577.
-
(2003)
J Biol Chem
, vol.278
, pp. 32569-32577
-
-
Choi, H.Y.1
Karten, B.2
Chan, T.3
Vance, J.E.4
Greer, W.L.5
Heidenreich, R.A.6
Garver, W.S.7
Francis, G.A.8
-
26
-
-
69449103972
-
Epistasis and its implication for personal genetics
-
Moore JH, Williams SM (2009) Epistasis and its implication for personal genetics. Am J Hum Genet 85, 309-320.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 309-320
-
-
Moore, J.H.1
Williams S, M.2
-
27
-
-
36249029788
-
Pathwaybased approaches for analysis of genomewide association studies
-
Wang K, Li M, Bucan M (2007) Pathwaybased approaches for analysis of genomewide association studies. Am J Hum Genet 81, 1278-1283.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1278-1283
-
-
Wang, K.1
Li, M.2
Bucan, M.3
|