-
1
-
-
0000721551
-
A defect in cholesterol esterification in Niemannâ€"Pick disease (type C) patients
-
P.G. Pentchev, M.E. Comly, H.S. Kruth, M.T. Vanier, D.A. Wenger, S. Patel, and R.O. Brady A defect in cholesterol esterification in Niemannâ€"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
Comly, M.E.2
Kruth, H.S.3
Vanier, M.T.4
Wenger, D.A.5
Patel, S.6
Brady, R.O.7
-
2
-
-
0022917296
-
Type C Niemannâ€"Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts
-
P.G. Pentchev, H.S. Kruth, M.E. Comly, J.D. Butler, M.T. Vanier, D.A. Wenger, and S. Patel Type C Niemannâ€"Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts J. Biol. Chem. 261 1986 16775 16780
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 16775-16780
-
-
Pentchev, P.G.1
Kruth, H.S.2
Comly, M.E.3
Butler, J.D.4
Vanier, M.T.5
Wenger, D.A.6
Patel, S.7
-
3
-
-
0023879638
-
Niemannâ€"Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients
-
M.T. Vanier, D.A. Wenger, M.E. Comly, R. Rousson, R.O. Brady, and P.G. Pentchev Niemannâ€"Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients Clin. Genet. 33 1988 331 348
-
(1988)
Clin. Genet.
, vol.33
, pp. 331-348
-
-
Vanier, M.T.1
Wenger, D.A.2
Comly, M.E.3
Rousson, R.4
Brady, R.O.5
Pentchev, P.G.6
-
4
-
-
0025777970
-
Type C Niemannâ€"Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
M.T. Vanier, C. Rodriguez-Lafrasse, R. Rousson, N. Gazzah, M.C. Juge, P.G. Pentchev, A. Revol, and P. Louisot Type C Niemannâ€"Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing Biochim. Biophys. Acta 1096 1991 328 337
-
(1991)
Biochim. Biophys. Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Gazzah, N.4
Juge, M.C.5
Pentchev, P.G.6
Revol, A.7
Louisot, P.8
-
5
-
-
0024459132
-
Clinical spectrum of Niemannâ€"Pick disease type C
-
J.K. Fink, M.R. Filling-Katz, J. Sokol, D.G. Cogan, A. Pikus, B. Sonies, B. Soong, P.G. Pentchev, M.E. Comly, and R.O. Brady Clinical spectrum of Niemannâ€"Pick disease type C Neurology 39 1989 1040 1049
-
(1989)
Neurology
, vol.39
, pp. 1040-1049
-
-
Fink, J.K.1
Filling-Katz, M.R.2
Sokol, J.3
Cogan, D.G.4
Pikus, A.5
Sonies, B.6
Soong, B.7
Pentchev, P.G.8
Comly, M.E.9
Brady, R.O.10
-
6
-
-
0028785286
-
Psychosis as the initial manifestation of adult-onset Niemannâ€"Pick disease type C
-
L.M. Shulman, N.J. David, and W.J. Weiner Psychosis as the initial manifestation of adult-onset Niemannâ€"Pick disease type C Neurology 45 1995 1739 1743
-
(1995)
Neurology
, vol.45
, pp. 1739-1743
-
-
Shulman, L.M.1
David, N.J.2
Weiner, W.J.3
-
7
-
-
0029741821
-
Niemannâ€"Pick disease type C. from bench to bedside
-
R. Schiffmann Niemannâ€"Pick disease type C. From bench to bedside JAMA 276 1996 561 564
-
(1996)
JAMA
, vol.276
, pp. 561-564
-
-
Schiffmann, R.1
-
8
-
-
0000831301
-
Niemannâ€"Pick disease type C: A lipid trafficking disorder
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler B. Vogelstein 8th ed. Mc Graw Hill New York
-
M.C. Patterson, M.T. Vanier, K. Suzuki, J.A. Morris, E.D. Carstea, E.B. Neufeld, E.J. Blanchette-Mackie, and P.G. Pentchev Niemannâ€" Pick disease type C: a lipid trafficking disorder C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler B. Vogelstein The Metabolic and Molecular Bases of Inherited Disease 8th ed. 2001 Mc Graw Hill New York 3611 3634
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3611-3634
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
Morris, J.A.4
Carstea, E.D.5
Neufeld, E.B.6
Blanchette-Mackie, E.J.7
Pentchev, P.G.8
-
9
-
-
0026409287
-
Type C Niemannâ€"Pick disease: Biochemical aspects and phenotypic heterogeneity
-
M.T. Vanier, C. Rodriguez-Lafrasse, R. Rousson, S. Duthel, K. Harzer, P.G. Pentchev, A. Revol, and P. Louisot Type C Niemannâ€"Pick disease: biochemical aspects and phenotypic heterogeneity Dev. Neurosci. 13 1991 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
Revol, A.7
Louisot, P.8
-
10
-
-
0141886877
-
Niemannâ€"Pick disease type C
-
M.T. Vanier, and G. Millat Niemannâ€"Pick disease type C Clin. Genet. 64 2003 269 281
-
(2003)
Clin. Genet.
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
11
-
-
0027512555
-
Linkage of Niemannâ€"Pick disease type C to human chromosome 18
-
E.D. Carstea, M.H. Polymeropoulos, C.C. Parker, S.D. Detera-Wadleigh, R.R. O'Neill, M.C. Patterson, E. Goldin, H. Xiao, R.E. Straub, and M.T. Vanier Linkage of Niemannâ€"Pick disease type C to human chromosome 18 Proc. Natl. Acad. Sci. U. S. A. 90 1993 2002 2004
-
(1993)
Proc. Natl. Acad. Sci. U. S. A.
, 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
Goldin, E.7
Xiao, H.8
Straub, R.E.9
Vanier, M.T.10
-
12
-
-
0028330236
-
Complementation studies in Niemannâ€"Pick disease type C indicate the existence of a second group
-
S.J. Steinberg, C.P. Ward, and A.H. Fensom Complementation studies in Niemannâ€"Pick disease type C indicate the existence of a second group J. Med. Genet. 31 1994 317 320
-
(1994)
J. Med. Genet.
, vol.31
, pp. 317-320
-
-
Steinberg, S.J.1
Ward, C.P.2
Fensom, A.H.3
-
13
-
-
84862429058
-
Niemannâ€"Pick disease type C: Genetic heterogeneity
-
M.T. Vanier, S. Duthel, C. Rodriguez-Lafrasse, R. Rousson, P.G. Pentchev, and E.D. Carstea Niemannâ€"Pick disease type C: genetic heterogeneity Am. J. Hum. Genet. 55 1994 A178
-
(1994)
Am. J. Hum. Genet.
, vol.55
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Lafrasse, C.3
Rousson, R.4
Pentchev, P.G.5
Carstea, E.D.6
-
14
-
-
0029655528
-
Genetic heterogeneity in Niemannâ€"Pick C disease: A study using somatic cell hybridization and linkage analysis
-
M.T. Vanier, S. Duthel, C. Rodriguez-Lafrasse, P. Pentchev, and E.D. Carstea Genetic heterogeneity in Niemannâ€"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.3
Pentchev, P.4
Carstea, E.D.5
-
15
-
-
0029845517
-
Co-cultivation of Niemannâ€"Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification
-
S.J. Steinberg, D. Mondal, and A.H. Fensom Co-cultivation of Niemannâ€"Pick disease type C fibroblasts belonging to complementation groups alpha and beta 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
-
16
-
-
0030863352
-
Niemannâ€"Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
E.D. Carstea, J.A. Morris, K.G. Coleman, S.K. Loftus, D. Zhang, C. Cummings, J. Gu, M. Rosenfeld, W.J. Pavan, D.B. Krizman, J. Nagle, M. Polymeropoulos, S.L. Sturley, Y.A. Ioannou, M.E. Higgins, M. Comly, A. Cooney, A. Brown, C.R. Kaneski, E.J. Blanchette-Mackie, N.K. Dwyer, E.B. Neufeld, T.Y. Chang, L. Liscum, J.F. Strauss, K. Ohno, M. Zeigler, R. Carmi, J. Sokol, D. Markie, R.R. O'Neill, O.P. van Diggelen, M. Elleder, M.C. Patterson, R.O. Brady, M.T. Vanier, P.G. Pentchev, and D.A. Tagle Niemannâ€"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
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
Cummings, C.6
Gu, J.7
Rosenfeld, M.8
Pavan, W.J.9
Krizman, D.B.10
Nagle, J.11
Polymeropoulos, M.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, 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..
-
17
-
-
0034704245
-
Identification of HE1 as the second gene of Niemannâ€" pick C disease
-
S. Naureckiene, D.E. Sleat, H. Lackland, A. Fensom, M.T. Vanier, R. Wattiaux, M. Jadot, and P. Lobel Identification of HE1 as the second gene of Niemannâ€"pick C disease Science 290 2000 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
Jadot, M.7
Lobel, P.8
-
18
-
-
0034755958
-
Niemannâ€"Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
-
G. Millat, K. Chikh, S. Naureckiene, D.E. Sleat, A.H. Fensom, K. Higaki, M. Elleder, P. Lobel, and M.T. Vanier Niemannâ€"Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group Am. J. Hum. Genet. 69 2001 1013 1021
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1013-1021
-
-
Millat, G.1
Chikh, K.2
Naureckiene, S.3
Sleat, D.E.4
Fensom, A.H.5
Higaki, K.6
Elleder, M.7
Lobel, P.8
Vanier, M.T.9
-
19
-
-
0034890396
-
Pulmonary storage with emphysema as a sign of Niemannâ€" Pick type C2 disease (second complementation group). Report of a Case
-
M. Elleder, H. Houstkova, J. Zeman, J. Ledvinova, and H. Poupetova Pulmonary storage with emphysema as a sign of Niemannâ€"Pick type C2 disease (second complementation group). Report of a Case Virchows Arch. 439 2001 206 211
-
(2001)
Virchows Arch.
, vol.439
, pp. 206-211
-
-
Elleder, M.1
Houstkova, H.2
Zeman, J.3
Ledvinova, J.4
Poupetova, H.5
-
20
-
-
0036895321
-
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
-
H.H. Klünemann, M. Elleder, W.E. Kaminski, K. Snow, J.M. Peyser, J.F. O'Brien, D. Munoz, G. Schmitz, H.E. Klein, and W.W. Pendlebury Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2 Ann. Neurol. 52 2002 743 749
-
(2002)
Ann. Neurol.
, vol.52
, pp. 743-749
-
-
Klünemann, H.H.1
Elleder, M.2
Kaminski, W.E.3
Snow, K.4
Peyser, J.M.5
O'Brien, J.F.6
Munoz, D.7
Schmitz, G.8
Klein, H.E.9
Pendlebury, W.W.10
-
21
-
-
0141753992
-
Identification of 58 novel mutations in Niemannâ€"Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
-
W.D. Park, J.F. O'Brien, P.A. Lundquist, D.L. Kraft, C.W. Vockley, P.S. Karnes, M.C. Patterson, and K. Snow Identification of 58 novel mutations in Niemannâ€"Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1 Human Mutat. 22 2003 313 325
-
(2003)
Human Mutat.
, vol.22
, pp. 313-325
-
-
Park, W.D.1
O'Brien, J.F.2
Lundquist, P.A.3
Kraft, D.L.4
Vockley, C.W.5
Karnes, P.S.6
Patterson, M.C.7
Snow, K.8
-
22
-
-
0033542422
-
A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol
-
N. Okamura, S. Kiuchi, M. Tamba, T. Kashima, S. Hiramoto, T. Baba, F. Dacheux, J.L. Dacheux, Y. Sugita, and Y.Z. Jin A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol Biochim. Biophys. Acta 1438 1999 377 387
-
(1999)
Biochim. Biophys. Acta
, vol.1438
, pp. 377-387
-
-
Okamura, N.1
Kiuchi, S.2
Tamba, M.3
Kashima, T.4
Hiramoto, S.5
Baba, T.6
Dacheux, F.7
Dacheux, J.L.8
Sugita, Y.9
Jin, Y.Z.10
-
23
-
-
0037418188
-
Structure of a cholesterol-binding protein deficient in Niemannâ€"Pick type C2 disease
-
N. Friedland, H.L. Liou, P. Lobel, and A.M. Stock Structure of a cholesterol-binding protein deficient in Niemannâ€"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
Liou, H.L.2
Lobel, P.3
Stock, A.M.4
-
24
-
-
0344838432
-
The integrity of a cholesterol-binding pocket in Niemann†"Pick C2 protein is necessary to control lysosome cholesterol levels
-
D.C. Ko, J. Binkley, A. Sidow, and M.P. Scott The integrity of a cholesterol-binding pocket in Niemannâ€"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
Binkley, J.2
Sidow, A.3
Scott, M.P.4
-
25
-
-
0035830942
-
The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol binding protein
-
F. Alpy, M.E. Stoeckel, A. Dierich, J.M. Escola, C. Wendling, M.P. Chenard, M.T. Vanier, J. Gruenberg, C. Tomasetto, and M.C. Rio The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol binding protein J. Biol. Chem. 276 2001 4261 4269
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 4261-4269
-
-
Alpy, F.1
Stoeckel, M.E.2
Dierich, A.3
Escola, J.M.4
Wendling, C.5
Chenard, M.P.6
Vanier, M.T.7
Gruenberg, J.8
Tomasetto, C.9
Rio, M.C.10
-
26
-
-
0029866407
-
Molecular cloning and characterization of HE1, a major secretory protein of the human epididymis
-
C. Kirchhoff, C. Osterhoff, and L. Young Molecular cloning and characterization of HE1, a major secretory protein of the human epididymis Biol. Reprod. 54 1996 847 856
-
(1996)
Biol. Reprod.
, vol.54
, pp. 847-856
-
-
Kirchhoff, C.1
Osterhoff, C.2
Young, L.3
-
27
-
-
0031035738
-
Primary structure of EPV20, a secretory glycoprotein containing a previously uncharacterized type of domain
-
L.B. Larsen, P. Ravn, A. Boisen, L. Berglund, and T.E. Petersen Primary structure of EPV20, a secretory glycoprotein containing a previously uncharacterized type of domain Eur. J. Biochem. 243 1997 437 441
-
(1997)
Eur. J. Biochem.
, vol.243
, pp. 437-441
-
-
Larsen, L.B.1
Ravn, P.2
Boisen, A.3
Berglund, L.4
Petersen, T.E.5
-
28
-
-
0028558461
-
Gene expression in the dog epididymis: A model for human epididymal function
-
K. Ellerbrock, I. Pera, S. Hartung, and R. Ivell Gene expression in the dog epididymis: a model for human epididymal function Int. J. Androl. 17 1994 314 323
-
(1994)
Int. J. Androl.
, vol.17
, pp. 314-323
-
-
Ellerbrock, K.1
Pera, I.2
Hartung, S.3
Ivell, R.4
-
29
-
-
0034643894
-
Primary structure, genomic organization and expression of the major secretory protein of murine epididymis, ME1
-
Y. Nakamura, N. Takayama, T. Minamitani, T. Ikuta, H. Ariga, and K. Matsumoto Primary structure, genomic organization and expression of the major secretory protein of murine epididymis, ME1 Gene 251 2000 55 62
-
(2000)
Gene
, vol.251
, pp. 55-62
-
-
Nakamura, Y.1
Takayama, N.2
Minamitani, T.3
Ikuta, T.4
Ariga, H.5
Matsumoto, K.6
-
30
-
-
0029867339
-
Molecular cloning and characterization of EPI-1, the major protein in chimpanzee (Pan troglodytes) cauda epididymal fluid
-
O. Fröhlich, and L.G. Young Molecular cloning and characterization of EPI-1, the major protein in chimpanzee (Pan troglodytes) cauda epididymal fluid Biol. Reprod. 54 1996 857 864
-
(1996)
Biol. Reprod.
, vol.54
, pp. 857-864
-
-
Fröhlich, O.1
Young, L.G.2
-
31
-
-
0028872592
-
The monkey ESP14.6 mRNA, a novel transcript expressed at high levels in the epididymis
-
A.C. Perry, R. Jones, and L. Hall The monkey ESP14.6 mRNA, a novel transcript expressed at high levels in the epididymis Gene 153 1995 291 292
-
(1995)
Gene
, vol.153
, pp. 291-292
-
-
Perry, A.C.1
Jones, R.2
Hall, L.3
-
32
-
-
0037319111
-
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemannâ€"Pick type C disease
-
T.S. Blom, M.D. Linder, K. Snow, H. Pihko, M.W. Hess, E. Jokitalo, V. Veckman, A.C. Syvanen, and E. Ikonen Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemannâ€"Pick type C disease Hum. Mol. Genet. 12 2003 257 272
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 257-272
-
-
Blom, T.S.1
Linder, M.D.2
Snow, K.3
Pihko, H.4
Hess, M.W.5
Jokitalo, E.6
Veckman, V.7
Syvanen, A.C.8
Ikonen, E.9
-
33
-
-
1642496888
-
Differential trafficking of the Niemannâ€"Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking
-
M. Zhang, M. Sun, N.K. Dwyer, M.E. Comly, S.C. Patel, R. Sundaram, J.A. Hanover, and E.J. Blanchette-Mackie Differential trafficking of the Niemannâ€"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
Sun, M.2
Dwyer, N.K.3
Comly, M.E.4
Patel, S.C.5
Sundaram, R.6
Hanover, J.A.7
Blanchette-Mackie, E.J.8
-
34
-
-
0025286334
-
Forme respiratoire mortelle de maladie de Niemannâ€"Pick type C
-
L. Pin, S. Pradines, O. Pincemaille, P. Frappat, E. Brambilla, M.T. Vanier, and M. Bost Forme respiratoire mortelle de maladie de Niemann - Pick type C Arch. Fr. Pediatr. 47 1990 373 375
-
(1990)
Arch. Fr. Pediatr.
, vol.47
, pp. 373-375
-
-
Pin, L.1
Pradines, S.2
Pincemaille, O.3
Frappat, P.4
Brambilla, E.5
Vanier, M.T.6
Bost, M.7
-
35
-
-
0031882520
-
Early-lethal pulmonary form of Niemanna - Pick type C disease belonging to a second rare genetic complementation group
-
O. Schofer, B. Mischo, W. Püschel, K. Harzer, and M.T. Vanier Early-lethal pulmonary form of Niemann - Pick type C disease belonging to a second rare genetic complementation group Eur. J. Pediatr. 157 1998 45 49
-
(1998)
Eur. J. Pediatr.
, vol.157
, pp. 45-49
-
-
Schofer, O.1
Mischo, B.2
Püschel, W.3
Harzer, K.4
Vanier, M.T.5
-
36
-
-
0035990150
-
Prenatal diagnosis of Niemann - Pick diseases types A, B and C
-
M.T. Vanier Prenatal diagnosis of Niemann - Pick diseases types A, B and C Prenat. Diagn. 22 2002 630 632
-
(2002)
Prenat. Diagn.
, vol.22
, pp. 630-632
-
-
Vanier, M.T.1
-
37
-
-
0037815282
-
NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols
-
A. Frolov, S.E. Zielinski, J.R. Crowley, N. Dudley-Rucker, J.E. Schaffer, and D.S. Ory NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols J. Biol. Chem. 278 2003 25517 25525
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 25517-25525
-
-
Frolov, A.1
Zielinski, S.E.2
Crowley, J.R.3
Dudley-Rucker, N.4
Schaffer, J.E.5
Ory, D.S.6
-
38
-
-
0032892536
-
Lipid changes in Niemannâ€"Pick disease type C brain: Personal experience and review of the literature
-
M.T. Vanier Lipid changes in Niemannâ€"Pick disease type C brain: personal experience and review of the literature Neurochem. Res. 24 1999 481 489
-
(1999)
Neurochem. Res.
, vol.24
, pp. 481-489
-
-
Vanier, M.T.1
-
39
-
-
11144355005
-
Genetic evidence for non-redundant functional co-operativity between NPC1 and NPC2 in lipid transport
-
D.E. Sleat, J.A. Wiseman, M. El-Banna, S.M. Price, L. Verot, M.M. Shen, G.S. Tint, M.T. Vanier, S.U. Walkley, and P. Lobel Genetic evidence for non-redundant functional co-operativity 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
Wiseman, J.A.2
El-Banna, M.3
Price, S.M.4
Verot, L.5
Shen, M.M.6
Tint, G.S.7
Vanier, M.T.8
Walkley, S.U.9
Lobel, P.10
-
40
-
-
0033855448
-
Deficient ferritin immunoreactivity in tissues from Niemann†"Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemannâ€"Pick C2 complementation group
-
H. Christomanou, M.T. Vanier, P. Santambrogio, P. Arosio, W.J. Kleijer, and K. Harzer Deficient ferritin immunoreactivity in tissues from Niemannâ€"Pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemannâ€"Pick C2 complementation group Mol. Genet. Metab. 70 2000 196 202
-
(2000)
Mol. Genet. Metab.
, vol.70
, pp. 196-202
-
-
Christomanou, H.1
Vanier, M.T.2
Santambrogio, P.3
Arosio, P.4
Kleijer, W.J.5
Harzer, K.6
-
41
-
-
0009779418
-
Cholesterol transfer proteins from ram cauda epididymal and seminal plasma
-
C.S. Baker, S.F. Magargee, and R.H. Hammerstedt Cholesterol transfer proteins from ram cauda epididymal and seminal plasma Biol. Reprod., Suppl. 48 1993 86
-
(1993)
Biol. Reprod., Suppl.
, vol.48
, pp. 86
-
-
Baker, C.S.1
Magargee, S.F.2
Hammerstedt, R.H.3
-
42
-
-
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
-
43
-
-
0024474453
-
Correction of sphingomyelinase deficiency in Niemannâ€" Pick type C fibroblasts by removal of lipoprotein fraction from culture media
-
G.H. Thomas, C.M. Tuck-Muller, C.S. Miller, and L.W. Reynolds Correction of sphingomyelinase deficiency in Niemannâ€"Pick type C fibroblasts by removal of lipoprotein fraction from culture media J. Inherit. Metab. Dis. 12 1989 139 151
-
(1989)
J. Inherit. Metab. Dis.
, vol.12
, pp. 139-151
-
-
Thomas, G.H.1
Tuck-Muller, C.M.2
Miller, C.S.3
Reynolds, L.W.4
-
44
-
-
2342436735
-
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemannâ€"Pick disease type C
-
R. Salvioli, S. Scarpa, F. Ciaffoni, M. Tatti, C. Ramoni, M.T. Vanier, and A.M. Vaccaro Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemannâ€"Pick disease type C J. Biol. Chem. 279 2004 17676 17680
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 17676-17680
-
-
Salvioli, R.1
Scarpa, S.2
Ciaffoni, F.3
Tatti, M.4
Ramoni, C.5
Vanier, M.T.6
Vaccaro, A.M.7
-
45
-
-
0034704244
-
Transmembrane molecular pump activity of Niemannâ€"Pick C1 protein
-
J.P. Davies, F.W. Chen, and Y.A. Ioannou Transmembrane molecular pump activity of Niemannâ€"Pick C1 protein Science 290 2000 2295 2298
-
(2000)
Science
, vol.290
, pp. 2295-2298
-
-
Davies, J.P.1
Chen, F.W.2
Ioannou, Y.A.3
-
46
-
-
0033618338
-
Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemannâ€"Pick C1 glycoprotein
-
H. Watari, E.J. Blanchette-Mackie, N.K. Dwyer, M. Watari, E.B. Neufeld, S. Patel, P.G. Pentchev, and J.F. Strauss III Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemannâ€"Pick C1 glycoprotein J. Biol. Chem. 274 1999 21861 21866
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 21861-21866
-
-
Watari, H.1
Blanchette-Mackie, E.J.2
Dwyer, N.K.3
Watari, M.4
Neufeld, E.B.5
Patel, S.6
Pentchev, P.G.7
Strauss III, J.F.8
-
47
-
-
0034987798
-
Niemannâ€"Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
-
G. Millat, C. Marçais, C. Tomasetto, K. Chikh, A.H. Fensom, K. Harzer, D.A. Wenger, K. Ohno, and M.T. Vanier Niemannâ€"Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop Am. J. Hum. Genet. 68 2001 1373 1385
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1373-1385
-
-
Millat, G.1
Marçais, C.2
Tomasetto, C.3
Chikh, K.4
Fensom, A.H.5
Harzer, K.6
Wenger, D.A.7
Ohno, K.8
Vanier, M.T.9
-
48
-
-
0029942903
-
Origin of cholesterol in myelin
-
P. Morell, and H. Jurevics Origin of cholesterol in myelin Neurochem. Res. 21 1996 463 470
-
(1996)
Neurochem. Res.
, vol.21
, pp. 463-470
-
-
Morell, P.1
Jurevics, H.2
-
49
-
-
0344011516
-
Ontogenesis and regulation of cholesterol metabolism in the central nervous system of the mouse
-
G. Quan, C. Xie, J.M. Dietschy, and S.D. Turley Ontogenesis and regulation of cholesterol metabolism in the central nervous system of the mouse Brain Res. Dev. Brain Res. 146 2003 87 98
-
(2003)
Brain Res. Dev. Brain Res.
, vol.146
, pp. 87-98
-
-
Quan, G.1
Xie, C.2
Dietschy, J.M.3
Turley, S.D.4
-
50
-
-
0029795699
-
Brain does not utilize low density lipoprotein-cholesterol during fetal and neonatal development in the sheep
-
S.D. Turley, D.K. Burns, C.R. Rosenfeld, and J.M. Dietschy Brain does not utilize low density lipoprotein-cholesterol during fetal and neonatal development in the sheep J. Lipid Res. 37 1996 1953 1961
-
(1996)
J. Lipid Res.
, vol.37
, pp. 1953-1961
-
-
Turley, S.D.1
Burns, D.K.2
Rosenfeld, C.R.3
Dietschy, J.M.4
-
51
-
-
0035834416
-
CNS synaptogenesis promoted by glia-derived cholesterol
-
D.H. Mauch, K. Nägler, S. Schumacher, C. Göritz, E.C. Müpller, A. Otto, and F.W. Pfrieger CNS synaptogenesis promoted by glia-derived cholesterol Science 294 2001 1354 1357
-
(2001)
Science
, vol.294
, pp. 1354-1357
-
-
Mauch, D.H.1
Nägler, K.2
Schumacher, S.3
Göritz, C.4
Müller, E.C.5
Otto, A.6
Pfrieger, F.W.7
-
52
-
-
0036896284
-
Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemannâ€"Pick C1-deficient neurons
-
B. Karten, D.E. Vance, R.B. Campenot, and J.E. Vance Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemannâ€"Pick C1-deficient neurons J. Neurochem. 83 2002 1154 1163
-
(2002)
J. Neurochem.
, vol.83
, pp. 1154-1163
-
-
Karten, B.1
Vance, D.E.2
Campenot, R.B.3
Vance, J.E.4
-
53
-
-
1542513994
-
A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemannâ€"Pick type C1 mouse brain
-
P.C. Reid, N. Sakashita, S. Sugii, Y. Ohno-Iwashita, Y. Shimada, W.F. Hickey, and T.Y. Chang A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemannâ€"Pick type C1 mouse brain J. Lipid Res. 45 2004 582 591
-
(2004)
J. Lipid Res.
, vol.45
, pp. 582-591
-
-
Reid, P.C.1
Sakashita, N.2
Sugii, S.3
Ohno-Iwashita, Y.4
Shimada, Y.5
Hickey, W.F.6
Chang, T.Y.7
-
54
-
-
0041700117
-
Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent
-
M.C. Gondre-Lewis, R. McGlynn, and S.U. Walkley 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
McGlynn, R.2
Walkley, S.U.3
-
55
-
-
4744347394
-
Niemann-Pick type C disease: Importance of N-glycosylation sites for function and cellular location of the NPC2 protein
-
K. Chikh, S. Vey, C. Simonot, M.T. Vanier, and G. Millat Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein Mol. Gen. Metab. 83 2004 (in press)
-
(2004)
Mol. Gen. Metab.
, vol.83
-
-
Chikh, K.1
Vey, S.2
Simonot, C.3
Vanier, M.T.4
Millat, G.5
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