-
1
-
-
0000831301
-
Niemann-Pick Disease Type C: A lipid trafficking disorder
-
C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York
-
Patterson, M. C., M. T. Vanier, K. Suzuki, J. A. Morris, E. Carstea, E. B. Neufeld, J. E. Blanchette-Mackie, and P. G. Pentchev. 2001. Niemann-Pick Disease Type C: a lipid trafficking disorder. In The Metabolic and Molecular Bases of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York. 3611-3633.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3611-3633
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
Morris, J.A.4
Carstea, E.5
Neufeld, E.B.6
Blanchette-Mackie, J.E.7
Pentchev, P.G.8
-
2
-
-
34249909505
-
The National Niemann-Pick C1 disease database: Report of clinical features and health problems
-
Garver, W. S., G. A. Francis, D. Jelinek, G. Shepherd, J. Flynn, G. Castro, C. Walsh Vockley, D. L. Coppock, K. M. Pettit, R. A. Heidenreich, et al. 2007. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am. J. Med. Genet. A. 143A: 1204-1211.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 1204-1211
-
-
Garver, W.S.1
Francis, G.A.2
Jelinek, D.3
Shepherd, G.4
Flynn, J.5
Castro, G.6
Walsh Vockley, C.7
Coppock, D.L.8
Pettit, K.M.9
Heidenreich, R.A.10
-
3
-
-
0028148626
-
Severe failure to thrive and liver dysfunction as the main manifestations of a new variant of Niemann-Pick disease
-
Reif, S., Z. Spirer, G. Messer, M. Baratz, B. Bembi, and Y. Bujanover. 1994. Severe failure to thrive and liver dysfunction as the main manifestations of a new variant of Niemann-Pick disease. Clin. Pediatr. (Phila.). 33: 628-630.
-
(1994)
Clin. Pediatr. (Phila.)
, vol.33
, pp. 628-630
-
-
Reif, S.1
Spirer, Z.2
Messer, G.3
Baratz, M.4
Bembi, B.5
Bujanover, Y.6
-
4
-
-
0026727943
-
Liver failure and the sea-blue histiocyte/adult Niemann-Pick disease. Case report and review of the literature
-
Putterman, C., J. Zelingher, and D. Shouval. 1992. Liver failure and the sea-blue histiocyte/adult Niemann-Pick disease. Case report and review of the literature. J. Clin. Gastroenterol. 15: 146-149.
-
(1992)
J. Clin. Gastroenterol.
, vol.15
, pp. 146-149
-
-
Putterman, C.1
Zelingher, J.2
Shouval, D.3
-
5
-
-
0024825262
-
Progressive neonatal liver failure due to type C Niemann-Pick disease
-
Rutledge, J. C. 1989. Progressive neonatal liver failure due to type C Niemann-Pick disease. Pediatr. Pathol. 9: 779-784.
-
(1989)
Pediatr. Pathol.
, vol.9
, pp. 779-784
-
-
Rutledge, J.C.1
-
6
-
-
0027264799
-
Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen
-
Dumontel, C., C. Girod, F. Dijoud, Y. Dumez, and M. T. Vanier. 1993. Fetal Niemann-Pick disease type C: ultrastructural and lipid findings in liver and spleen. Virchows Arch. A Pathol. Anat. Histopathol. 422: 253-259.
-
(1993)
Virchows Arch. A Pathol. Anat. Histopathol.
, vol.422
, pp. 253-259
-
-
Dumontel, C.1
Girod, C.2
Dijoud, F.3
Dumez, Y.4
Vanier, M.T.5
-
7
-
-
0036068897
-
Niemann-pick disease type C in neonatal cholestasis at a North American Center
-
Yerushalmi, B., R. J. Sokol, M. R. Narkewicz, D. Smith, J. W. Ashmead, and D. A. Wenger. 2002. Niemann-pick disease type C in neonatal cholestasis at a North American Center. J. Pediatr. Gastroenterol. Nutr. 35: 44-50.
-
(2002)
J. Pediatr. Gastroenterol. Nutr.
, vol.35
, pp. 44-50
-
-
Yerushalmi, B.1
Sokol, R.J.2
Narkewicz, M.R.3
Smith, D.4
Ashmead, J.W.5
Wenger, D.A.6
-
8
-
-
0027305869
-
Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease
-
Kelly, D. A., B. Portmann, A. P. Mowat, S. Sherlock, and B. D. Lake. 1993. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J. Pediatr. 123: 242-247.
-
(1993)
J. Pediatr.
, vol.123
, pp. 242-247
-
-
Kelly, D.A.1
Portmann, B.2
Mowat, A.P.3
Sherlock, S.4
Lake, B.D.5
-
9
-
-
25844483845
-
Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease
-
Beltroy, E. P., J. A. Richardson, J. D. Horton, S. D. Turley, and J. M. Dietschy. 2005. Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease. Hepatology. 42: 886-893.
-
(2005)
Hepatology
, vol.42
, pp. 886-893
-
-
Beltroy, E.P.1
Richardson, J.A.2
Horton, J.D.3
Turley, S.D.4
Dietschy, J.M.5
-
10
-
-
43949136158
-
In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C-associated liver disease
-
Rimkunas, V. M., M. J. Graham, R. M. Crooke, and L. Liscum. 2008. In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C-associated liver disease. Hepatology. 47: 1504-1512.
-
(2008)
Hepatology
, vol.47
, pp. 1504-1512
-
-
Rimkunas, V.M.1
Graham, M.J.2
Crooke, R.M.3
Liscum, L.4
-
11
-
-
64749110513
-
TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease
-
Rimkunas, V. M., M. J. Graham, R. M. Crooke, and L. Liscum. 2009. TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease. J. Lipid Res. 50: 327-333.
-
(2009)
J. Lipid Res.
, vol.50
, pp. 327-333
-
-
Rimkunas, V.M.1
Graham, M.J.2
Crooke, R.M.3
Liscum, L.4
-
12
-
-
0001858448
-
Liver regeneration
-
I. Arias, J. Boyer, F. Chisari, N. Fausto, and D. Schachter, editors. Lippincott Williams & Wilkins, Philadelphia, PA
-
Fausto, N. 2001. Liver regeneration. In The Liver Biology and Pathobiology. I. Arias, J. Boyer, F. Chisari, N. Fausto, and D. Schachter, editors. Lippincott Williams & Wilkins, Philadelphia, PA. 591-610.
-
(2001)
The Liver Biology and Pathobiology
, pp. 591-610
-
-
Fausto, N.1
-
13
-
-
0035119936
-
Pharmacokinetic properties of 2'-O-(2-methoxyethyl)-modified oligonucleotide analogs in rats
-
Geary, R. S., T. A. Watanabe, L. Truong, S. Freier, E. A. Lesnik, N. B. Sioufi, H. Sasmor, M. Manoharan, and A. A. Levin. 2001. Pharmacokinetic properties of 2'-O-(2-methoxyethyl)-modified oligonucleotide analogs in rats. J. Pharmacol. Exp. Ther. 296: 890-897.
-
(2001)
J. Pharmacol. Exp. Ther.
, vol.296
, pp. 890-897
-
-
Geary, R.S.1
Watanabe, T.A.2
Truong, L.3
Freier, S.4
Lesnik, E.A.5
Sioufi, N.B.6
Sasmor, H.7
Manoharan, M.8
Levin, A.A.9
-
14
-
-
20544474017
-
An apolipoprotein B antisense oligonucleotide lowers LDL cholesterol in hyperlipidemic mice without causing hepatic steatosis
-
Crooke, R. M., M. J. Graham, K. M. Lemonidis, C. P. Whipple, S. Koo, and R. J. Perera. 2005. An apolipoprotein B antisense oligonucleotide lowers LDL cholesterol in hyperlipidemic mice without causing hepatic steatosis. J. Lipid Res. 46: 872-884.
-
(2005)
J. Lipid Res.
, vol.46
, pp. 872-884
-
-
Crooke, R.M.1
Graham, M.J.2
Lemonidis, K.M.3
Whipple, C.P.4
Koo, S.5
Perera, R.J.6
-
15
-
-
39549101454
-
Diacylglycerol acyltranferase 1 anti-sense oligonucleotides reduce hepatic fibrosis in mice with nonalcoholic steatohepatitis
-
Yamaguchi, K., L. Yang, S. McCall, J. Huang, X. X. Yu, S. K. Pandey, S. Bhanot, B. P. Monia, Y. X. Li, and A. M. Diehl. 2008. Diacylglycerol acyltranferase 1 anti-sense oligonucleotides reduce hepatic fibrosis in mice with nonalcoholic steatohepatitis. Hepatology. 47: 625-635.
-
(2008)
Hepatology
, vol.47
, pp. 625-635
-
-
Yamaguchi, K.1
Yang, L.2
McCall, S.3
Huang, J.4
Yu, X.X.5
Pandey, S.K.6
Bhanot, S.7
Monia, B.P.8
Li, Y.X.9
Diehl, A.M.10
-
16
-
-
60549084168
-
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- Mouse
-
Liu, B., S. D. Turley, D. K. Burns, A. M. Miller, J. J. Repa, and J. M. Dietschy. 2009. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc. Natl. Acad. Sci. USA. 106: 2377-2382.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 2377-2382
-
-
Liu, B.1
Turley, S.D.2
Burns, D.K.3
Miller, A.M.4
Repa, J.J.5
Dietschy, J.M.6
-
17
-
-
21744457262
-
Delineation of molecular changes in intrahepatic cholesterol metabolism resulting from diminished cholesterol absorption
-
Repa, J. J., S. D. Turley, G. Quan, and J. M. Dietschy. 2005. Delineation of molecular changes in intrahepatic cholesterol metabolism resulting from diminished cholesterol absorption. J. Lipid Res. 46: 779-789.
-
(2005)
J. Lipid Res.
, vol.46
, pp. 779-789
-
-
Repa, J.J.1
Turley, S.D.2
Quan, G.3
Dietschy, J.M.4
-
18
-
-
37549037886
-
Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse
-
Repa, J. J., H. Li, T. C. Frank-Cannon, M. A. Valasek, S. D. Turley, M. G. Tansey, and J. M. Dietschy. 2007. Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse. J. Neurosci. 27: 14470-14480.
-
(2007)
J. Neurosci.
, vol.27
, pp. 14470-14480
-
-
Repa, J.J.1
Li, H.2
Frank-Cannon, T.C.3
Valasek, M.A.4
Turley, S.D.5
Tansey, M.G.6
Dietschy, J.M.7
-
19
-
-
70449158340
-
A simple method for the isolation and purification of total lipids from animal tissues
-
Folch, J., M. Lees, and G. H. S. Stanley. 1957. A simple method for the isolation and purification of total lipids from animal tissues. J. Biol. Chem. 226: 497-509.
-
(1957)
J. Biol. Chem.
, vol.226
, pp. 497-509
-
-
Folch, J.1
Lees, M.2
Stanley, G.H.S.3
-
20
-
-
0026047744
-
Characterization of Chinese hamster ovary cells that are resistant to 3-b-[2-(diethylamino) ethoxy] androst-5-en-17-one inhibition of low density lipoprotein-derived cholesterol metabolism
-
Liscum, L., and G. J. Collins. 1991. Characterization of Chinese hamster ovary cells that are resistant to 3-b-[2-(diethylamino) ethoxy] androst-5-en-17-one inhibition of low density lipoprotein-derived cholesterol metabolism. J. Biol. Chem. 266: 16599-16606.
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 16599-16606
-
-
Liscum, L.1
Collins, G.J.2
-
21
-
-
34248208778
-
Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse
-
Garver, W. S., D. Jelinek, J. N. Oyarzo, J. Flynn, M. Zuckerman, K. Krishnan, B. H. Chung, and R. A. Heidenreich. 2007. Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse. J. Cell. Biochem. 101: 498-516.
-
(2007)
J. Cell. Biochem.
, vol.101
, pp. 498-516
-
-
Garver, W.S.1
Jelinek, D.2
Oyarzo, J.N.3
Flynn, J.4
Zuckerman, M.5
Krishnan, K.6
Chung, B.H.7
Heidenreich, R.A.8
-
22
-
-
0020317591
-
Sphingomyelinosis, a new mutation in the mouse: A model of Niemann-Pick disease in humans
-
Miyawaki, S., S. Mitsuoka, T. Sakiyama, and T. Kitagawa. 1982. Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans. J. Hered. 73: 257-263.
-
(1982)
J. Hered.
, vol.73
, pp. 257-263
-
-
Miyawaki, S.1
Mitsuoka, S.2
Sakiyama, T.3
Kitagawa, T.4
-
23
-
-
34147137671
-
Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease
-
Beltroy, E. P., B. Liu, J. M. Dietschy, and S. D. Turley. 2007. Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease. J. Lipid Res. 48: 869-881.
-
(2007)
J. Lipid Res.
, vol.48
, pp. 869-881
-
-
Beltroy, E.P.1
Liu, B.2
Dietschy, J.M.3
Turley, S.D.4
-
24
-
-
0012119538
-
Pathophysiology of liver fibrosis
-
I. Arias, J. Boyer, F. Chisari, N. Fausto, and D. Schachter, editors. Lippincott Williams &Wilkins: Philadelphia, PA
-
Rojkind, M. G. P., 2001. Pathophysiology of liver fibrosis. In The Liver Biology and Pathobiology. I. Arias, J. Boyer, F. Chisari, N. Fausto, and D. Schachter, editors. Lippincott Williams &Wilkins: Philadelphia, PA. 721-738.
-
(2001)
The Liver Biology and Pathobiology
, pp. 721-738
-
-
Rojkind, M.G.P.1
-
26
-
-
62549085567
-
Liver X receptor modulators: Effects on lipid metabolism and potential use in the treatment of atherosclerosis
-
Fievet, C., and B. Staels. 2009. Liver X receptor modulators: effects on lipid metabolism and potential use in the treatment of atherosclerosis. Biochem. Pharmacol. 77: 1316-1327.
-
(2009)
Biochem. Pharmacol.
, vol.77
, pp. 1316-1327
-
-
Fievet, C.1
Staels, B.2
-
27
-
-
73949159934
-
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C
-
Yanjanin, N.M., J. I. Velez, A. Gropman, K. King, S. E. Bianconi, S. K. Conley, C. C. Brewer, B. Solomon, W. J. Pavan, M. Arcos-Burgos, et al. 2010. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 153B: 132-140.
-
(2010)
Am J Med Genet B Neuropsychiatr Genet.
, vol.153 B
, pp. 132-140
-
-
Yanjanin, N.M.1
Velez, J.I.2
Gropman, A.3
King, K.4
Bianconi, S.E.5
Conley, S.K.6
Brewer, C.C.7
Solomon, B.8
Pavan, W.J.9
Arcos-Burgos, M.10
-
28
-
-
67349165423
-
Hepatic stellate cell: A star cell in the liver
-
Atzori, L., G. Poli, and A. Perra. 2009. Hepatic stellate cell: a star cell in the liver. Int. J. Biochem. Cell Biol. 41: 1639-1642.
-
(2009)
Int. J. Biochem. Cell Biol.
, vol.41
, pp. 1639-1642
-
-
Atzori, L.1
Poli, G.2
Perra, A.3
-
29
-
-
51349135630
-
Inflammatory stress exacerbates lipid accumulation in hepatic cells and fatty livers of apolipoprotein E knockout mice
-
Ma, K. L., X. Z. Ruan, S. H. Powis, Y. Chen, J. F. Moorhead, and Z. Varghese. 2008. Inflammatory stress exacerbates lipid accumulation in hepatic cells and fatty livers of apolipoprotein E knockout mice. Hepatology. 48: 770-781.
-
(2008)
Hepatology
, vol.48
, pp. 770-781
-
-
Ma, K.L.1
Ruan, X.Z.2
Powis, S.H.3
Chen, Y.4
Moorhead, J.F.5
Varghese, Z.6
-
30
-
-
61849095626
-
Enhanced free cholesterol, SREBP-2 and StAR expression in human NASH
-
Caballero, F., A. Fernandez, A. M. De Lacy, J. C. Fernandez-Checa, J. Caballeria, and C. Garcia-Ruiz. 2009. Enhanced free cholesterol, SREBP-2 and StAR expression in human NASH. J. Hepatol. 50: 789-796
-
(2009)
J. Hepatol.
, vol.50
, pp. 789-796
-
-
Caballero, F.1
Fernandez, A.2
De Lacy, A.M.3
Fernandez-Checa, J.C.4
Caballeria, J.5
Garcia-Ruiz, C.6
|