A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis

Journal of Biological Chemistry

Volumn 285, Issue 9, 2010, Pages 6706-6715

  He, Shaoqing ^a   McPhaul, Christopher ^a   Li, John Zhong ^a   Garuti, Rita ^a   Kinch, Lisa ^b   Grishin, Nick V ^b   Cohen, Jonathan C ^a   Hobbs, Helen H ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOSE TISSUE; CELL FRACTIONATION; ENZYMATIC ACTIVITIES; HEPATOCYTES; IN-VITRO ASSAYS; INSULIN RESISTANCE; LIPID DROPLETS; NON-ALCOHOLIC FATTY LIVER DISEASE; PHOSPHOLIPASES; SEQUENCE VARIATIONS; STRUCTURAL MODELING; SUBCELLULAR DISTRIBUTION; WILD TYPES; WILD-TYPE ENZYMES;

AMINO ACIDS; EMULSIFICATION; HYDROLYSIS; PHOSPHATASES; PLANTS (BOTANY);

PROTEINS;

ISOLEUCINE; MEMBRANE PROTEIN; METHIONINE; PATATIN LIKE PHOSPHOLIPASE DOMAIN CONTAINING 3 PROTEIN; UNCLASSIFIED DRUG; ADIPONUTRIN, HUMAN; TRIACYLGLYCEROL; TRIACYLGLYCEROL LIPASE;

AMINO ACID SUBSTITUTION; ANIMAL TISSUE; ARTICLE; CELL FRACTIONATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENZYME ACTIVITY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYDROLYSIS; IMMUNOLOCALIZATION; MALE; MOUSE; NONALCOHOLIC FATTY LIVER; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PURIFICATION; ANIMAL; CELL LINE; FATTY LIVER; GENETICS; LIVER; LIVER CELL; METABOLISM; MISSENSE MUTATION;

MUS;

ANIMALS; CELL LINE; FATTY LIVER; HEPATOCYTES; HUMANS; HYDROLYSIS; LIPASE; LIVER; MEMBRANE PROTEINS; MICE; MUTATION, MISSENSE; TRIGLYCERIDES;

EID: 77949895032     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.064501     Document Type: Article

References (32)

1. Browning, J. D., Szczepaniak, L. S., Dobbins, R., Nuremberg, P., Horton, J. D., Cohen, J. C., Grundy, S. M., and Hobbs, H. H. (2004) Hepatology 40, 1387-1395
2. Browning, J. D., and Horton, J. D. (2004) J. Clin. Invest. 114, 147-152
3. Yuan, B., Neuman, R., Duan, S. H., Weber, J. L., Kwok, P. Y., Saccone, N. L., Wu, J. S., Liu, K. Y., and Schonfeld, G. (2000) Am. J. Hum. Genet. 66, 1699-1704
4. Kotronen, A., Johansson, L. E., Johansson, L. M., Roos, C., Westerbacka, J., Hamsten, A., Bergholm, R., Arkkila, P., Arola, J., Kiviluoto, T., Fisher, R. M., Ehrenborg, E., Orho-Melander, M., Ridderstråle, M., Groop, L., and Yki-Järvinen, H. (2009) Diabetologia 52, 1056-1060
5. Sookoian, S., Castaño, G. O., Burgueño, A. L., Gianotti, T. F., Risselli, M. S., and Pirola, C. J. (2009) J. Lipid Res. 52, 2111-2116
6. Romeo, S., Sentinelli, F., Dash, S., Yeo, G. S., Savage, D. B., Leonetti, F., Capoccia, D., Incani, M., Maglio, C., Iacovino, M., O'Rahilly, S., and Baroni, M. G. (2010) Int. J. Obes. (Lond.) 34, 190-194
7. Kantartzis, K., Peter, A., Machicao, F., Machann, J., Wagner, S., Königsrainer, I., Königsrainer, A., Schick, F., Fritsche, A., Häring, H. U., and Stefan, N. (2009) Diabetes 58, 2616-2623
8. Baulande, S., Lasnier, F., Lucas, M., and Pairault, J. (2001) J. Biol. Chem. 276, 33336-33344
9. Galliard, T. (1971) Biochem. J. 121, 379-390
10. Kienesberger, P. C., Oberer, M., Lass, A., and Zechner, R. (2009) J. Lipid Res. 50, S63-S68
11. Wilson, P. A., Gardner, S. D., Lambie, N. M., Commans, S. A., and Crowther, D. J. (2006) J. Lipid Res. 47, 1940-1949
12. Jenkins, C. M., Mancuso, D. J., Yan, W., Sims, H. F., Gibson, B., and Gross, R. W. (2004) J. Biol. Chem. 279, 48968-48975
13. Lake, A. C., Sun, Y., Li, J. L., Kim, J. E., Johnson, J. W., Li, D., Revett, T., Shih, H. H., Liu, W., Paulsen, J. E., and Gimeno, R. E. (2005) J. Lipid Res. 46, 2477-2487
14. Kershaw, E. E., Hamm, J. K., Verhagen, L. A., Peroni, O., Katic, M., and Flier, J. S. (2006) Diabetes 55, 148-157
15. Altschul, S. F., Madden, T. L., Schäffer, A. A., Zhang, J., Zhang, Z., Miller, W., and Lipman, D. J. (1997) Nucleic Acids Res. 25, 3389-3402
16. Pei, J., Kim, B. H., and Grishin, N. V. (2008) Nucleic Acids Res. 36, 2295-2300
17. Arnold, K., Bordoli, L., Kopp, J., and Schwede, T. (2006) Bioinformatics 22, 195-201
18. Rydel, T. J., Williams, J. M., Krieger, E., Moshiri, F., Stallings, W. C., Brown, S. M., Pershing, J. C., Purcell, J. P., and Alibhai, M. F. (2003) Biochemistry 42, 6696-6708
19. DeLano, W. L. (2002) The PyMOL Molecular Graphics System, DeLano Scientific, LLC, Palo Alto, CA
20. Romeo, S., Yin, W., Kozlitina, J., Pennacchio, L. A., Boerwinkle, E., Hobbs, H. H., and Cohen, J. C. (2009) J. Clin. Invest. 119, 70-79
21. Bligh, E. G., and Dyer, W. J. (1959) Can. J. Biochem. Physiol 37, 911-917
22. Omura, S., Tomoda, H., Xu, Q. M., Takahashi, Y., and Iwai, Y. (1986) J. Antibiot. 39, 1211-1218
23. Folch, J., Lees, M., and Sloane Stanley, G. H. (1957) J. Biol. Chem. 226, 497-509
24. Sheehan, D. C., and Hrapchak, B. B. (1980) Theory and Practice of Histotechnology, 2nd Ed., p. 205, Mosby, St. Louis
25. Brasaemle, D. L., and Wolins, N. E. (2006) Current Protocols in Cell Biology, pp. 3.15.1-3.15.12, Wiley Interscience, New York
26. Romeo, S., Kozlitina, J., Xing, C., Pertsemlidis, A., Cox, D., Pennacchio, L. A., Boerwinkle, E., Cohen, J. C., and Hobbs, H. H. (2008) Nat. Genet. 40, 1461-1465
27. Soni, K. G., Mardones, G. A., Sougrat, R., Smirnova, E., Jackson, C. L., and Bonifacino, J. S. (2009) J. Cell Sci. 122, 1834-1841
28. Wada, I., Rindress, D., Cameron, P. H., Ou, W. J., Doherty, J. J., 2nd, Louvard, D., Bell, A. W., Dignard, D., Thomas, D. Y., and Bergeron, J. J. (1991) J. Biol. Chem. 266, 19599-19610
29. Bickel, P. E., Scherer, P. E., Schnitzer, J. E., Oh, P., Lisanti, M. P., and Lodish, H. F. (1997) J. Biol. Chem. 272, 13793-13802
30. Fujimoto, T., and Ohsaki, Y. (2006) Ann. N.Y. Acad. Sci. 1086, 104-115
31. Reid, B. N., Ables, G. P., Otlivanchik, O. A., Schoiswohl, G., Zechner, R., Blaner, W. S., Goldberg, I. J., Schwabe, R. F., Chua, S. C., Jr., and Huang, L. S. (2008) J. Biol. Chem. 283, 13087-13099
32. Lass, A., Zimmermann, R., Haemmerle, G., Riederer, M., Schoiswohl, G., Schweiger, M., Kienesberger, P., Strauss, J. G., Gorkiewicz, G., and Zechner, R. (2006) Cell Metabolism 3, 309-319