Niemann-Pick C1-Like 1 and cholesterol uptake

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1821, Issue 7, 2012, Pages 964-972

  Wang, Li Juan ^a   Song, Bao Liang ^a  

^a INSTITUTE OF BIOCHEMISTRY AND CELL BIOLOGY   (China)

Author keywords

Cholesterol absorption; Ezetimibe; Flotillin; Lipid raft; NPC1; NPC1L1

Indexed keywords

25 HYDROXYCHOLESTEROL; 26 HYDROXYCHOLESTEROL; ACTIN; CHOLESTEROL; EZETIMIBE; FLOTILLIN 1; FLOTILLIN 2; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; NIEMANN PICK C1 LIKE 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

BILIARY EXCRETION; CAENORHABDITIS ELEGANS; CELL SURFACE; CHOLESTEROL INTAKE; CHOLESTEROL METABOLISM; CHOLESTEROL TRANSPORT; DNA POLYMORPHISM; ENDOCYTOSIS; ENTEROHEPATIC CIRCULATION; HUMAN; ILEUM; IN VITRO STUDY; IN VIVO STUDY; INTERNALIZATION; INTESTINE ABSORPTION; INTESTINE CELL; JEJUNUM; LIPID RAFT; LIVER; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STABILITY; PROTEIN SYNTHESIS; REVIEW;

ANIMALS; ANTICHOLESTEREMIC AGENTS; AZETIDINES; BILIARY TRACT; BIOLOGICAL TRANSPORT; CHOLESTEROL; ENTEROCYTES; HEPATOCYTES; HUMANS; INTESTINAL ABSORPTION; LIPID METABOLISM; LIVER; MEMBRANE PROTEINS; MICROVILLI; PROTEIN STRUCTURE, TERTIARY;

EID: 84860687550     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2012.03.004     Document Type: Review

References (113)

1. R.A. Kreisberg, and A. Oberman Clinical review 141: lipids and atherosclerosis: lessons learned from randomized controlled trials of lipid lowering and other relevant studies J. Clin. Endocrinol. Metab. 87 2002 423 437
2. V.L. Roger, A.S. Go, D.M. Lloyd-Jones, R.J. Adams, J.D. Berry, T.M. Brown, M.R. Carnethon, S. Dai, S.G. De, E.S. Ford, C.S. Fox, H.J. Fullerton, C. Gillespie, K.J. Greenlund, S.M. Hailpern, J.A. Heit, P.M. Ho, V.J. Howard, B.M. Kissela, S.J. Kittner, D.T. Lackland, J.H. Lichtman, L.D. Lisabeth, D.M. Makuc, G.M. Marcus, A. Marelli, D.B. Matchar, M.M. McDermott, J.B. Meigs, C.S. Moy, D. Mozaffarian, M.E. Mussolino, G. Nichol, N.P. Paynter, W.D. Rosamond, P.D. Sorlie, R.S. Stafford, T.N. Turan, M.B. Turner, N.D. Wong, and J. Wylie-Rosett Heart disease and stroke statistics - 2011 update: a report from the American Heart Association Circulation 123 2011 e18 e209
3. D. Lloyd-Jones, R.J. Adams, T.M. Brown, M. Carnethon, S. Dai, S.G. De, T.B. Ferguson, E. Ford, K. Furie, C. Gillespie, A. Go, K. Greenlund, N. Haase, S. Hailpern, P.M. Ho, V. Howard, B. Kissela, S. Kittner, D. Lackland, L. Lisabeth, A. Marelli, M.M. McDermott, J. Meigs, D. Mozaffarian, M. Mussolino, G. Nichol, V.L. Roger, W. Rosamond, R. Sacco, P. Sorlie, V.L. Roger, T. Thom, S. Wasserthiel-Smoller, N.D. Wong, and J. Wylie-Rosett Heart disease and stroke statistics - 2010 update: a report from the American Heart Association Circulation 121 2010 e46 e215
4. J.L. Goldstein, and M.S. Brown Regulation of the mevalonate pathway Nature 343 1990 425 430
5. J.D. Horton, J.L. Goldstein, and M.S. Brown SREBPs: transcriptional mediators of lipid homeostasis Cold Spring Harb. Symp. Quant. Biol. 67 2002 491 498
6. M.S. Brown, and J.L. Goldstein The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor Cell 89 1997 331 340
7. M.S. Brown, and J.L. Goldstein A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood Proc. Natl. Acad. Sci. U. S. A. 96 1999 11041 11048
8. C. Gagne, H.E. Bays, S.R. Weiss, P. Mata, K. Quinto, M. Melino, M. Cho, T.A. Musliner, and B. Gumbiner Efficacy and safety of ezetimibe added to ongoing statin therapy for treatment of patients with primary hypercholesterolemia Am. J. Cardiol. 90 2002 1084 1091
9. S.B. Rosenblum, T. Huynh, A. Afonso, H.R. Davis Jr., N. Yumibe, J.W. Clader, and D.A. Burnett Discovery of 1-(4-fluorophenyl)-(3R)-[3-(4- fluorophenyl)-(3S)-hydroxypropyl]-(4S)-(4 -hydroxyphenyl)-2-azetidinone (SCH 58235): a designed, potent, orally active inhibitor of cholesterol absorption J. Med. Chem. 41 1998 973 980
10. M.H. Davidson, T. Mcgarry, R. Bettis, L. Melani, L.J. Lipka, A.P. Lebeaut, R. Suresh, S. Sun, and E.P. Veltri Ezetimibe coadministered with simvastatin in patients with primary hypercholesterolemia J. Am. Coll. Cardiol. 40 2002 2125 2134
11. J.P. Davies, B. Levy, and Y.A. Ioannou Evidence for a Niemann-Pick C (NPC) gene family: identification and characterization of NPC1L1 Genomics 65 2000 137 145
12. E.D. Carstea, J.A. Morris, K.G. Coleman, S.K. Loftus, D. Zhang, C. Cummings, J. Gu, M.A. Rosenfeld, W.J. Pavan, D.B. Krizman, J. Nagle, M.H. 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 III, 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 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis Science 277 1997 228 231
13. S.K. Loftus, J.A. Morris, E.D. Carstea, J.Z. Gu, C. Cummings, A. Brown, J. Ellison, K. Ohno, M.A. Rosenfeld, D.A. Tagle, P.G. Pentchev, and W.J. Pavan Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene Science 277 1997 232 235
14. S.W. Altmann, H.R. Davis Jr., L.J. Zhu, X. Yao, L.M. Hoos, G. Tetzloff, S.P. Iyer, M. Maguire, A. Golovko, M. Zeng, L. Wang, N. Murgolo, and M.P. Graziano Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption Science 303 2004 1201 1204
15. L. Yu, S. Bharadwaj, J.M. Brown, Y. Ma, W. Du, M.A. Davis, P. Michaely, P. Liu, M.C. Willingham, and L.L. Rudel Cholesterol-regulated translocation of NPC1L1 to the cell surface facilitates free cholesterol uptake J. Biol. Chem. 281 2006 6616 6624
16. J. Wang, B.B. Chu, L. Ge, B.L. Li, Y. Yan, and B.L. Song Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption J. Lipid Res. 50 2009 1653 1662
17. 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
18. P.E. Kuwabara, and M. Labouesse The sterol-sensing domain: multiple families, a unique role? Trends Genet. 18 2002 193 201
19. M.K. Cooper, C.A. Wassif, P.A. Krakowiak, J. Taipale, R. Gong, R.I. Kelley, F.D. Porter, and P.A. Beachy A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis Nat. Genet. 33 2003 508 513
20. H.J. Kwon, L. Bi-Mosleh, M.L. Wang, J. Deisenhofer, J.L. Goldstein, M.S. Brown, and R.E. Infante Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol Cell 137 2009 1213 1224
21. H.J. Kwon, M. Palnitkar, and J. Deisenhofer The structure of the NPC1L1 N-terminal domain in a closed conformation PLoS One 6 2011 e18722
22. J.H. Zhang, L. Ge, W. Qi, L. Zhang, H.H. Miao, B.L. Li, M. Yang, and B.L. Song The N-terminal domain of NPC1L1 protein binds cholesterol and plays essential roles in cholesterol uptake J. Biol. Chem. 286 2011 25088 25097
23. S.P. Iyer, X. Yao, J.H. Crona, L.M. Hoos, G. Tetzloff, H.R. Davis Jr., M.P. Graziano, and S.W. Altmann Characterization of the putative native and recombinant rat sterol transporter Niemann-Pick C1 Like 1 (NPC1L1) protein Biochim. Biophys. Acta 1722 2005 282 292
24. L.J. Wang, J. Wang, N. Li, L. Ge, B.L. Li, and B.L. Song Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers J. Biol. Chem. 286 2011 7397 7408
25. Y. Yamanashi, T. Takada, and H. Suzuki In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers Pharmacogenet. Genomics 19 2009 884 892
26. M. Garcia-Calvo, J. Lisnock, H.G. Bull, B.E. Hawes, D.A. Burnett, M.P. Braun, J.H. Crona, H.R. Davis Jr., D.C. Dean, P.A. Detmers, M.P. Graziano, M. Hughes, D.E. Macintyre, A. Ogawa, K.A. O'Neill, S.P. Iyer, D.E. Shevell, M.M. Smith, Y.S. Tang, A.M. Makarewicz, F. Ujjainwalla, S.W. Altmann, K.T. Chapman, and N.A. Thornberry The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1) Proc. Natl. Acad. Sci. U. S. A. 102 2005 8132 8137
27. A.B. Weinglass, M. Kohler, U. Schulte, J. Liu, E.O. Nketiah, A. Thomas, W. Schmalhofer, B. Williams, W. Bildl, D.R. Mcmasters, K. Dai, L. Beers, M.E. McCann, G.J. Kaczorowski, and M.L. Garcia Extracellular loop C of NPC1L1 is important for binding to ezetimibe Proc. Natl. Acad. Sci. U. S. A. 105 2008 11140 11145
28. D.Q. Wang Regulation of intestinal cholesterol absorption Annu. Rev. Physiol. 69 2007 221 248
29. J.P. Davies, C. Scott, K. Oishi, A. Liapis, and Y.A. Ioannou Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia J. Biol. Chem. 280 2005 12710 12720
30. H.R. Davis Jr., L.J. Zhu, L.M. Hoos, G. Tetzloff, M. Maguire, J. Liu, X. Yao, S.P. Iyer, M.H. Lam, E.G. Lund, P.A. Detmers, M.P. Graziano, and S.W. Altmann Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis J. Biol. Chem. 279 2004 33586 33592
31. A.F. Hofmann, and B. Borgstroem The intraluminal phase of fat digestion in man: the lipid content of the micellar and oil phases of intestinal content obtained during fat digestion and absorption J. Clin. Invest. 43 1964 247 257
32. R.E. Temel, W. Tang, Y. Ma, L.L. Rudel, M.C. Willingham, Y.A. Ioannou, J.P. Davies, L.M. Nilsson, and L. Yu Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe J. Clin. Invest. 117 2007 1968 1978
33. L. Ge, W. Qi, L.J. Wang, H.H. Miao, Y.X. Qu, B.L. Li, and B.L. Song Flotillins play an essential role in Niemann-Pick C1-like 1-mediated cholesterol uptake Proc. Natl. Acad. Sci. U. S. A. 108 2011 551 556
34. W. Tang, L. Jia, Y. Ma, P. Xie, J. Haywood, P.A. Dawson, J. Li, and L. Yu Ezetimibe restores biliary cholesterol excretion in mice expressing Niemann-Pick C1-Like 1 only in liver Biochim. Biophys. Acta 1811 2011 549 555
35. P.W. Hruz, and M.M. Mueckler Structural analysis of the GLUT1 facilitative glucose transporter (review) Mol. Membr. Biol. 18 2001 183 193
36. G.I. Bell, T. Kayano, J.B. Buse, C.F. Burant, J. Takeda, D. Lin, H. Fukumoto, and S. Seino Molecular biology of mammalian glucose transporters Diabetes Care 13 1990 198 208
37. Y. Li, M.P. Marzolo, K.P. Van, G.J. Strous, and G. Bu The YXXL motif, but not the two NPXY motifs, serves as the dominant endocytosis signal for low density lipoprotein receptor-related protein J. Biol. Chem. 275 2000 17187 17194
38. D.J. Owen, and P.R. Evans A structural explanation for the recognition of tyrosine-based endocytotic signals Science 282 1998 1327 1332
39. L. Ge, J. Wang, W. Qi, H.H. Miao, J. Cao, Y.X. Qu, B.L. Li, and B.L. Song The cholesterol absorption inhibitor ezetimibe acts by blocking the sterol-induced internalization of NPC1L1 Cell Metab. 7 2008 508 519
40. J.D. Clifton, E. Lucumi, M.C. Myers, A. Napper, K. Hama, S.A. Farber, A.B. Smith III, D.M. Huryn, S.L. Diamond, and M. Pack Identification of novel inhibitors of dietary lipid absorption using zebrafish PLoS One 5 2010 e12386
41. M. Skov, C.K. Tonnesen, G.H. Hansen, and E.M. Danielsen Dietary cholesterol induces trafficking of intestinal Niemann-Pick Type C1 Like 1 from the brush border to endosomes Am. J. Physiol. Gastrointest. Liver Physiol. 300 2011 G33 G40
42. S.M. Grundy Absorption and metabolism of dietary cholesterol Annu. Rev. Nutr. 3 1983 71 96
43. M.F. Langhorst, A. Reuter, and C.A. Stuermer Scaffolding microdomains and beyond: the function of reggie/flotillin proteins Cell Mol. Life Sci. 62 2005 2228 2240
44. I.C. Morrow, and R.G. Parton Flotillins and the PHB domain protein family: rafts, worms and anaesthetics Traffic 6 2005 725 740
45. D.T. Browman, M.B. Hoegg, and S.M. Robbins The SPFH domain-containing proteins: more than lipid raft markers Trends Cell Biol. 17 2007 394 402
46. T. Babuke, and R. Tikkanen Dissecting the molecular function of reggie/flotillin proteins Eur. J. Cell Biol. 86 2007 525 532
47. K. Simons, and E. Ikonen Functional rafts in cell membranes Nature 387 1997 569 572
48. T. Babuke, M. Ruonala, M. Meister, M. Amaddii, C. Genzler, A. Esposito, and R. Tikkanen Hetero-oligomerization of reggie-1/flotillin-2 and reggie-2/flotillin-1 is required for their endocytosis Cell. Signal. 21 2009 1287 1297
49. O.O. Glebov, N.A. Bright, and B.J. Nichols Flotillin-1 defines a clathrin-independent endocytic pathway in mammalian cells Nat. Cell Biol. 8 2006 46 54
50. G. Salen, E.H. Ahrens Jr., and S.M. Grundy Metabolism of beta-sitosterol in man J. Clin. Invest. 49 1970 952 967
51. R. Schoenheimer New contributions in sterol metabolism Science 74 1931 579 584
52. J. Glover, and R.A. Morton The absorption and metabolism of sterols Br. Med. Bull. 14 1958 226 233
53. J.M. Brown, L.L. Rudel, and L. Yu NPC1L1 (Niemann-Pick C1-like 1) mediates sterol-specific unidirectional transport of non-esterified cholesterol in McArdle-RH7777 hepatoma cells Biochem. J. 406 2007 273 283
54. M.H. Lee, K. Lu, S. Hazard, H. Yu, S. Shulenin, H. Hidaka, H. Kojima, R. Allikmets, N. Sakuma, R. Pegoraro, A.K. Srivastava, G. Salen, M. Dean, and S.B. Patel Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption Nat. Genet. 27 2001 79 83
55. K.E. Berge, H. Tian, G.A. Graf, L. Yu, N.V. Grishin, J. Schultz, P. Kwiterovich, B. Shan, R. Barnes, and H.H. Hobbs Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters Science 290 2000 1771 1775
56. L. Yu, B.K. Von, D. Lutjohann, H.H. Hobbs, and J.C. Cohen Selective sterol accumulation in ABCG5/ABCG8-deficient mice J. Lipid Res. 45 2004 301 307
57. L. Yu, B.K. Von, D. Lutjohann, H.H. Hobbs, and J.C. Cohen Ezetimibe normalizes metabolic defects in mice lacking ABCG5 and ABCG8 J. Lipid Res. 46 2005 1739 1744
58. G. Salen, T. Starc, C.M. Sisk, and S.B. Patel Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis Gastroenterology 130 2006 1853 1857
59. G. Salen, B.K. Von, D. Lutjohann, P. Kwiterovich, J. Kane, S.B. Patel, T. Musliner, P. Stein, and B. Musser Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia Circulation 109 2004 966 971
60. S. Mukherjee, R.N. Ghosh, and F.R. Maxfield Endocytosis Physiol. Rev. 77 1997 759 803
61. D.J. Yamashiro, B. Tycko, S.R. Fluss, and F.R. Maxfield Segregation of transferrin to a mildly acidic (pH 6.5) para-Golgi compartment in the recycling pathway Cell 37 1984 789 800
62. F.R. Maxfield, and T.E. Mcgraw Endocytic recycling Nat. Rev. Mol. Cell Biol. 5 2004 121 132
63. S. Mukherjee, X. Zha, I. Tabas, and F.R. Maxfield Cholesterol distribution in living cells: fluorescence imaging using dehydroergosterol as a fluorescent cholesterol analog Biophys. J. 75 1998 1915 1925
64. M. Hao, S.X. Lin, O.J. Karylowski, D. Wustner, T.E. Mcgraw, and F.R. Maxfield Vesicular and non-vesicular sterol transport in living cells. The endocytic recycling compartment is a major sterol storage organelle J. Biol. Chem. 277 2002 609 617
65. D. Wustner, A. Herrmann, M. Hao, and F.R. Maxfield Rapid nonvesicular transport of sterol between the plasma membrane domains of polarized hepatic cells J. Biol. Chem. 277 2002 30325 30336
66. B.B. Chu, L. Ge, C. Xie, Y. Zhao, H.H. Miao, J. Wang, B.L. Li, and B.L. Song Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface J. Biol. Chem. 284 2009 22481 22490
67. N. Bdul-Manan, B. Aghazadeh, G.A. Liu, A. Majumdar, O. Ouerfelli, K.A. Siminovitch, and M.K. Rosen Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein Nature 399 1999 379 383
68. K.P. Harris, and U. Tepass Cdc42 and vesicle trafficking in polarized cells Traffic 11 2010 1272 1279
69. C. Xie, N. Li, Z.J. Chen, B.L. Li, and B.L. Song The small GTPase Cdc42 interacts with Niemann-Pick C1 Like 1 (NPC1L1) and controls its movement from endocytic recycling compartment to plasma membrane in a cholesterol dependent manner J. Biol. Chem. 286 2011 35933 35942
70. R. Rohatgi, L. Ma, H. Miki, M. Lopez, T. Kirchhausen, T. Takenawa, and M.W. Kirschner The interaction between N-WASP and the Arp2/3 complex links Cdc42-dependent signals to actin assembly Cell 97 1999 221 231
71. S. Gasman, S. Chasserot-Golaz, M. Malacombe, M. Way, and M.F. Bader Regulated exocytosis in neuroendocrine cells: a role for subplasmalemmal Cdc42/N-WASP-induced actin filaments Mol. Biol. Cell 15 2004 520 531
72. M.S. Bosner, L.G. Lange, W.F. Stenson, and R.E. Ostlund Jr. Percent cholesterol absorption in normal women and men quantified with dual stable isotopic tracers and negative ion mass spectrometry J. Lipid Res. 40 1999 302 308
73. M. Harangi, I. Balogh, J. Harangi, and G. Paragh Genetic background of the efficacy of cholesterol absorption. The role of Niemann-Pick C1-like 1 receptor and its genetic variations in lipid metabolism Orv. Hetil. 151 2010 1376 1383
74. T. Maeda, A. Honda, T. Ishikawa, M. Kinoshita, Y. Mashimo, Y. Takeoka, D. Yasuda, J. Kusano, K. Tsukamoto, Y. Matsuzaki, and T. Teramoto A SNP of NPC1L1 affects cholesterol absorption in Japanese J. Atheroscler. Thromb. 17 2010 356 360
75. E. Polisecki, I. Peter, J.S. Simon, R.A. Hegele, M. Robertson, I. Ford, J. Shepherd, C. Packard, J.W. Jukema, A.J. De Craen, R.G. Westendorp, B.M. Buckley, and E.J. Schaefer Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly J. Lipid Res. 51 2010 1201 1207
76. C.W. Chen, J.J. Hwang, C.T. Tsai, Y.N. Su, C.H. Hsueh, M.J. Shen, and L.P. Lai The g.-762T>C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels J. Hum. Genet. 54 2009 242 247
77. H.L. Zhao, A.H. Houweling, C.A. Vanstone, S. Jew, E.A. Trautwein, G.S. Duchateau, and P.J. Jones Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men Lipids 43 2008 1155 1164
78. J.C. Cohen, A. Pertsemlidis, S. Fahmi, S. Esmail, G.L. Vega, S.M. Grundy, and H.H. Hobbs Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels Proc. Natl. Acad. Sci. U. S. A. 103 2006 1810 1815
79. S. Fahmi, C. Yang, S. Esmail, H.H. Hobbs, and J.C. Cohen Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes Hum. Mol. Genet. 17 2008 2101 2107
80. B. Martin, M. Solanas-Barca, A.L. Garcia-Otin, S. Pampin, M. Cofan, E. Ros, J.C. Rodriguez-Rey, M. Pocovi, and F. Civeira An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia Nutr. Metab. Cardiovasc. Dis. 20 2010 236 242
81. J.S. Simon, M.C. Karnoub, D.J. Devlin, M.G. Arreaza, P. Qiu, S.A. Monks, M.E. Severino, P. Deutsch, J. Palmisano, A.B. Sachs, M.L. Bayne, A.S. Plump, and E.E. Schadt Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment Genomics 86 2005 648 656
82. R.A. Hegele, J. Guy, M.R. Ban, and J. Wang NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe Lipids Health Dis. 4 2005 16
83. J. Wang, C.M. Williams, and R.A. Hegele Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe Clin. Genet. 67 2005 175 177
84. Y.J. Guo, W.H. Li, R. Wu, Q. Xie, Z.H. Zhang, and L.Q. Cui Niemann-Pick type C1 protein influences the delivery of cholesterol to the SREBP:SCAP complex Braz. J. Med. Biol. Res. 41 2008 26 33
85. E.B. Neufeld, M. Wastney, S. Patel, S. Suresh, A.M. Cooney, N.K. Dwyer, C.F. Roff, K. Ohno, J.A. Morris, E.D. Carstea, J.P. Incardona, J.F. Strauss III, M.T. Vanier, M.C. Patterson, R.O. Brady, P.G. Pentchev, and E.J. Blanchette-Mackie The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo J. Biol. Chem. 274 1999 9627 9635
86. M.M. Smith, and D.J. Levitan Human NPC1L1 and NPC1 can functionally substitute for the ncr genes to promote reproductive development in C. elegans Biochim. Biophys. Acta 1770 2007 1345 1351
87. W.S. Garver, R.A. Heidenreich, R.P. Erickson, M.A. Thomas, and J.M. Wilson Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments J. Lipid Res. 41 2000 673 687
88. S. Kaushik, A.C. Massey, and A.M. Cuervo Lysosome membrane lipid microdomains: novel regulators of chaperone-mediated autophagy EMBO J. 25 2006 3921 3933
89. 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 Niemann-Pick C disease Science 290 2000 2298 2301
90. R.E. Infante, A. Radhakrishnan, L. Bi-Mosleh, L.N. Kinch, M.L. Wang, N.V. Grishin, J.L. Goldstein, and M.S. Brown Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop J. Biol. Chem. 283 2008 1064 1075
91. S. Xu, B. Benoff, H.L. Liou, P. Lobel, and A.M. Stock Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease J. Biol. Chem. 282 2007 23525 23531
92. R.E. Infante, M.L. Wang, A. Radhakrishnan, H.J. Kwon, M.S. Brown, and J.L. Goldstein NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes Proc. Natl. Acad. Sci. U. S. A. 105 2008 15287 15292
93. X. Du, J. Kumar, C. Ferguson, T.A. Schulz, Y.S. Ong, W. Hong, W.A. Prinz, R.G. Parton, A.J. Brown, and H. Yang A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking J. Cell Biol. 192 2011 121 135
94. A. Klein, L. Amigo, M.J. Retamal, M.G. Morales, J.F. Miquel, A. Rigotti, and S. Zanlungo NPC2 is expressed in human and murine liver and secreted into bile: potential implications for body cholesterol homeostasis Hepatology 43 2006 126 133
95. Y. Yamanashi, T. Takada, J.I. Shoda, and H. Suzuki Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein Hepatology 55 2012 953 964
96. Y. Yamanashi, T. Takada, T. Yoshikado, J. Shoda, and H. Suzuki NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport Gastroenterology 140 2011 1664 1674
97. S.S. Dixit, D.E. Sleat, A.M. Stock, and P. Lobel Do mammalian NPC1 and NPC2 play a role in intestinal cholesterol absorption? Biochem. J. 408 2007 1 5
98. S. Orlowski, C. Comera, F. Terce, and X. Collet Lipid rafts: dream or reality for cholesterol transporters? Eur. Biophys. J. 36 2007 869 885
99. D.T. Browman, M.E. Resek, L.D. Zajchowski, and S.M. Robbins Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER J. Cell Sci. 119 2006 3149 3160
100. M. Mairhofer, M. Steiner, U. Salzer, and R. Prohaska Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes J. Biol. Chem. 284 2009 29218 29229
101. T.A. Schulz, and W.A. Prinz Sterol transport in yeast and the oxysterol binding protein homologue (OSH) family Biochim. Biophys. Acta 1771 2007 769 780
102. M. Jansen, Y. Ohsaki, R.L. Rita, R. Bittman, V.M. Olkkonen, and E. Ikonen Role of ORPs in sterol transport from plasma membrane to ER and lipid droplets in mammalian cells Traffic 12 2011 218 231
103. C. Gagne, D. Gaudet, and E. Bruckert Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia Circulation 105 2002 2469 2475
104. J. Shepherd Combined lipid lowering drug therapy for the effective treatment of hypercholesterolaemia Eur. Heart J. 24 2003 685 689
105. H.C. Van Drug-induced acute autoimmune hepatitis during combination therapy with atorvastatin and ezetimibe Ann. Clin. Biochem. 42 2005 402 404
106. M.H. Davidson, C.M. Ballantyne, B. Kerzner, L. Melani, P.T. Sager, L. Lipka, J. Strony, R. Suresh, and E. Veltri Efficacy and safety of ezetimibe coadministered with statins: randomised, placebo-controlled, blinded experience in 2382 patients with primary hypercholesterolemia Int. J. Clin. Pract. 58 2004 746 755
107. Q. Liu, H. Tobias, and L.M. Petrovic Drug-induced liver injury associated with ezetimibe therapy Dig. Dis. Sci. 52 2007 602 605
108. M.E. Higgins, J.P. Davies, F.W. Chen, and Y.A. Ioannou Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network Mol. Genet. Metab. 68 1999 1 13
109. J.E. Rothman, and F.T. Wieland Protein sorting by transport vesicles Science 272 1996 227 234
110. S. Ponnambalam, C. Rabouille, J.P. Luzio, T. Nilsson, and G. Warren The TGN38 glycoprotein contains two non-overlapping signals that mediate localization to the trans-Golgi network J. Cell Biol. 125 1994 253 268
111. M. Cote, J. Misasi, T. Ren, A. Bruchez, K. Lee, C.M. Filone, L. Hensley, Q. Li, D. Ory, K. Chandran, and J. Cunningham Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection Nature 477 2011 344 348
112. J.E. Carette, M. Raaben, A.C. Wong, A.S. Herbert, G. Obernosterer, N. Mulherkar, A.I. Kuehne, P.J. Kranzusch, A.M. Griffin, G. Ruthel, P.D. Cin, J.M. Dye, S.P. Whelan, K. Chandran, and T.R. Brummelkamp Ebola virus entry requires the cholesterol transporter Niemann-Pick C1 Nature 477 2011 340 343
113. B. Sainz Jr., N. Barretto, D.N. Martin, N. Hiraga, M. Imamura, S. Hussain, K.A. Marsh, X. Yu, K. Chayama, W.A. Alrefai, and S.L. Uprichard Identification of the Niemann-Pick C1-like 1 cholesterol absorption receptor as a new hepatitis C virus entry factor Nat. Med. 18 2012 281 285