Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: Evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

Journal of Biological Chemistry

Volumn 285, Issue 9, 2010, Pages 6453-6464

  Zhong, Shumei ^a   Magnolo, Antonia Lucia ^b   Sundaram, Meenakshi ^a   Zhou, Hu ^a   Yao, Erik F ^a   Di Leo, Enza ^b   Loria, Paola ^b   Wang, Shuai ^a   Bamji Mirza, Michelle ^a   Wang, Lisheng ^a   McKnight, C Jamie ^c   Figeys, Daniel ^a   Wang, Yuwei ^a   Tarugi, Patrizia ^b   Yao, Zemin ^a,d  

^a UNIVERSITY OF OTTAWA   (Canada)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF OTTAWA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL-COA CARBOXYLASE; APOLIPOPROTEIN B; AUTOPHAGY; ELEMENT-BINDING PROTEINS; ENDOPLASMIC RETICULUM; ER STRESS; FAT ACCUMULATION; FATTY ACID SYNTHASE; FEEDBACK INHIBITION; GLYCOSYLATED; GOLGI COMPARTMENTS; ITALIAN POPULATION; LIPOGENESIS; LIVER X RECEPTORS; MUTANT PROTEINS; PROTEASOMES; RH7777 CELLS; STEAROYL-COA DESATURASE; WILD TYPES;

CUSTOMER SATISFACTION; DEGRADATION; FATTY ACIDS; GENE EXPRESSION; GENE EXPRESSION REGULATION; LIVER; NUCLEIC ACIDS; TOTAL QUALITY MANAGEMENT;

PROTEINS;

ACETYL COENZYME A CARBOXYLASE; ACETYL COENZYME A CARBOXYLASE 1; ACYL COENZYME A DESATURASE 1; APOLIPOPROTEIN B48; FATTY ACID SYNTHASE; LIPIN 1; LIVER X RECEPTOR ALPHA; MEMBRANE PROTEIN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1C; UNCLASSIFIED DRUG; APOLIPOPROTEIN B; MUTANT PROTEIN;

ARTICLE; AUTOPHAGY; CELL FRACTIONATION; CONTROLLED STUDY; DOWN REGULATION; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; FAMILIAL HYPOBETALIPOPROTEINEMIA; GENE MUTATION; GENETIC TRANSFECTION; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; LIPOGENESIS; LIPOPROTEIN SECRETION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN SECRETION; CHEMISTRY; FEEDBACK SYSTEM; GENETICS; HETEROZYGOTE; ITALY; LIVER; METABOLISM; MISSENSE MUTATION; PROTEIN FOLDING; SECRETION;

APOLIPOPROTEINS B; AUTOPHAGY; DOWN-REGULATION; ENDOPLASMIC RETICULUM; FEEDBACK, PHYSIOLOGICAL; GOLGI APPARATUS; HETEROZYGOTE; HUMANS; HYPOBETALIPOPROTEINEMIA, FAMILIAL, APOLIPOPROTEIN B; ITALY; LIPOGENESIS; LIVER; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN FOLDING;

EID: 77949898407     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.060467     Document Type: Article

References (55)

1. Tarugi, P., Averna, M., Di Leo, E., Cefalù, A. B., Noto, D., Magnolo, L., Cattin, L., Bertolini, S., and Calandra, S. (2007) Atherosclerosis 195, e19-e27
2. Chan, L. (1992) J. Biol. Chem. 267, 25621-25624
3. Fisher, E. A., and Ginsberg, H. N. (2002) J. Biol. Chem. 277, 17377-17380
4. Yao, Z., and McLeod, R. S. (1994) Biochim. Biophys. Acta 1212, 152-166
5. Schonfeld, G. (2003) J. Lipid Res. 44, 878-883
6. Burnett, J. R., Shan, J., Miskie, B. A., Whitfield, A. J., Yuan, J., Tran, K., McKnight, C. J., Hegele, R. A., and Yao, Z. (2003) J. Biol. Chem. 278, 13442-13452
7. Burnett, J. R., Zhong, S., Jiang, Z. G., Hooper, A. J., Fisher, E. A., McLeod, R. S., Zhao, Y., Barrett, P. H., Hegele, R. A., van Bockxmeer, F. M., Zhang, H., Vance, D. E., McKnight, C. J., and Yao, Z. (2007) J. Biol. Chem. 282, 24270-24283
8. McLeod, R. S., Zhao, Y., Selby, S. L., Westerlund, J., and Yao, Z. (1994) J. Biol. Chem. 269, 2852-2862
9. Yao, Z. M., Blackhart, B. D., Linton, M. F., Taylor, S. M., Young, S. G., and McCarthy, B. J. (1991) J. Biol. Chem. 266, 3300-3308
10. Mann, C. J., Anderson, T. A., Read, J., Chester, S. A., Harrison, G. B., Köchl, S., Ritchie, P. J., Bradbury, P., Hussain, F. S., Amey, J., Vanloo, B., Rosseneu, M., Infante, R., Hancock, J. M., Levitt, D. G., Banaszak, L. J., Scott, J., and Shoulders, C. C. (1999) J. Mol. Biol. 285, 391-408
11. Jiang, Z. G., Gantz, D., Bullitt, E., and McKnight, C. J. (2006) Biochemistry 45, 11799-11808
12. Gretch, D. G., Sturley, S. L., Wang, L., Lipton, B. A., Dunning, A., Grunwald, K. A., Wetterau, J. R., Yao, Z., Talmud, P., and Attie, A. D. (1996) J. Biol. Chem. 271, 8682-8691
13. McLeod, R. S., Wang, Y., Wang, S., Rusiñol, A., Links, P., and Yao, Z. (1996) J. Biol. Chem. 271, 18445-18455
14. Segrest, J. P., Jones, M. K., and Dashti, N. (1999) J. Lipid Res. 40, 1401-1416
15. Bradbury, P., Mann, C. J., Köchl, S., Anderson, T. A., Chester, S. A., Hancock, J. M., Ritchie, P. J., Amey, J., Harrison, G. B., Levitt, D. G., Banaszak, L. J., Scott, J., and Shoulders, C. C. (1999) J. Biol. Chem. 274, 3159-3164
16. Hussain, M. M., Bakillah, A., Nayak, N., and Shelness, G. S. (1998) J. Biol. Chem. 273, 25612-25615
17. Dashti, N., Manchekar, M., Liu, Y., Sun, Z., and Segrest, J. P. (2007) J. Biol. Chem. 282, 28597-28608
18. Olofsson, S. O., and Borèn, J. (2005) J. Intern. Med. 258, 395-410
19. Yamazaki, T., Sasaki, E., Kakinuma, C., Yano, T., Miura, S., and Ezaki, O. (2005) J. Biol. Chem. 280, 21506-21514
20. Bou Khalil, M., Sundaram, M., Zhang, H. Y., Links, P. H., Raven, J. F., Manmontri, B., Sariahmetoglu, M., Tran, K., Reue, K., Brindley, D. N., and Yao, Z. (2009) J. Lipid Res. 50, 47-58
21. Musso, G., Gambino, R., and Cassader, M. (2009) Prog. Lipid Res. 48, 1-26
22. Grefhorst, A., Elzinga, B. M., Voshol, P. J., Plösch, T., Kok, T., Bloks, V. W., van der Sluijs, F. H., Havekes, L. M., Romijn, J. A., Verkade, H. J., and Kuipers, F. (2002) J. Biol. Chem. 277, 34182-34190
23. Lin, J., Yang, R., Tarr, P. T., Wu, P. H., Handschin, C., Li, S., Yang, W., Pei, L., Uldry, M., Tontonoz, P., Newgard, C. B., and Spiegelman, B. M. (2005) Cell 120, 261-273
24. Tarugi, P., Lonardo, A., Gabelli, C., Sala, F., Ballarini, G., Cortella, I., Previato, L., Bertolini, S., Cordera, R., and Calandra, S. (2001) J. Lipid Res. 42, 1552-1561
25. Di Leo, E., Magnolo, L., Lancellotti, S., Crocè, L., Visintin, L., Tiribelli, C., Bertolini, S., Calandra, S., and Tarugi, P. (2007) J. Med. Genet. 44, 219-224
26. den Dunnen, J. T., and Antonarakis, S. E. (2000) Hum. Mutat. 15, 7-12
27. den Dunnen, J. T., and Paalman, M. H. (2003) Hum. Mutat. 22, 181-182
28. Fasano, T., Cefalù, A. B., Di Leo, E., Noto, D., Pollaccia, D., Bocchi, L., Valenti, V., Bonardi, R., Guardamagna, O., Averna, M., and Tarugi, P. (2007) Arterioscler. Thromb. Vasc. Biol. 27, 677-681
29. Blackhart, B. D., Yao, Z. M., and McCarthy, B. J. (1990) J. Biol. Chem. 265, 8358-8360
30. Wang, Y., McLeod, R. S., and Yao, Z. (1997) J. Biol. Chem. 272, 12272-12278
31. Tran, K., Thorne-Tjomsland, G., DeLong, C. J., Cui, Z., Shan, J., Burton, L., Jamieson, J. C., and Yao, Z. (2002) J. Biol. Chem. 277, 31187-31200
32. Borén, J., Graham, L., Wettesten, M., Scott, J., White, A., and Olofsson, S. O. (1992) J. Biol. Chem. 267, 9858-9867
33. Abu-Farha, M., Lambert, J. P., Al-Madhoun, A. S., Elisma, F., Skerjanc, I. S., and Figeys, D. (2008) Mol. Cell Proteomics 7, 560-572
34. Zhou, H., Hou, W., Denis, N. J., Zhou, H., Vasilescu, J., Zou, H., and Figeys, D. (2009) J. Proteome Res. 8, 556-566
35. Sali, A., and Blundell, T. L. (1993) J. Mol. Biol. 234, 779-815
36. Thompson, J. R., and Banaszak, L. J. (2002) Biochemistry 41, 9398-9409
37. Tatusova, T. A., and Madden, T. L. (1999) FEMS Microbiol. Lett. 174, 247-250
38. Koradi, R., Billeter, M., and Wüthrich, K. (1996) J. Mol. Graph. 14, 51-55
39. Lancellotti, S., Zaffanello, M., Di Leo, E., Costa, L., Lonardo, A., and Tarugi, P. (2005) J. Hepatol. 43, 188-191
40. Wang, Y., Tran, K., and Yao, Z. (1999) J. Biol. Chem. 274, 27793-27800
41. Su, Q., Tsai, J., Xu, E., Qiu, W., Bereczki, E., Santha, M., and Adeli, K. (2009) Hepatology 50, 77-84
42. Ota, T., Gayet, C., and Ginsberg, H. N. (2008) J. Clin. Invest. 118, 316-332
43. Ishimoto, K., Nakamura, H., Tachibana, K., Yamasaki, D., Ota, A., Hirano, K., Tanaka, T., Hamakubo, T., Sakai, J., Kodama, T., and Doi, T. (2009) J. Biol. Chem. 284, 22195-22205
44. Richardson, P. E., Manchekar, M., Dashti, N., Jones, M. K., Beigneux, A., Young, S. G., Harvey, S. C., and Segrest, J. P. (2005) Biophys. J. 88, 2789-2800
45. Flood, C., Gustafsson, M., Richardson, P. E., Harvey, S. C., Segrest, J. P., and Borén, J. (2002) J. Biol. Chem. 277, 32228-32233
46. Huang, X. F., and Shelness, G. S. (1997) J. Biol. Chem. 272, 31872-31876
47. Tran, K., Borén, J., Macri, J., Wang, Y., McLeod, R., Avramoglu, R. K., Adeli, K., and Yao, Z. (1998) J. Biol. Chem. 273, 7244-7251
48. Dejgaard, S., Nicolay, J., Taheri, M., Thomas, D. Y., and Bergeron, J. J. (2004) Curr. Issues Mol. Biol. 6, 29-42
49. Pan, M., Maitin, V., Parathath, S., Andreo, U., Lin, S. X., St Germain, C., Yao, Z., Maxfield, F. R., Williams, K. J., and Fisher, E. A. (2008) Proc. Natl. Acad. Sci. U.S.A. 105, 5862-5867
50. Ohsaki, Y., Cheng, J., Fujita, A., Tokumoto, T., and Fujimoto, T. (2006) Mol. Biol. Cell 17, 2674-2683
51. Lin, X., Schonfeld, G., Yue, P., and Chen, Z. (2002) Arterioscler. Thromb. Vasc. Biol. 22, 476-482
52. Lin, X., Chen, Z., Yue, P., Averna, M. R., Ostlund, R. E., Jr., Watson, M. A., and Schonfeld, G. (2006) Am. J. Physiol. Gastrointest. Liver Physiol. 290, G1170-G1176
53. Chen, Z., Fitzgerald, R. L., and Schonfeld, G. (2002) J. Biol. Chem. 277, 14135-14145
54. Carman, G. M., and Han, G. S. (2006) Trends Biochem. Sci. 31, 694-699
55. Finck, B. N., Gropler, M. C., Chen, Z., Leone, T. C., Croce, M. A., Harris, T. E., Lawrence, J. C., Jr., and Kelly, D. P. (2006) Cell Metab. 4, 199-210