Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome

Journal of Biological Chemistry

Volumn 281, Issue 14, 2006, Pages 9791-9800

  Cheong, Naeun ^a   Madesh, Muniswamy ^a   Gonzales, Linda W ^a   Zhao, Ming ^a   Yu, Kevin ^a   Ballard, Philip L ^a   Shuman, Henry ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINES; BIOLOGICAL ORGANS; CELL MEMBRANES; DISEASES; SODIUM COMPOUNDS;

ATP BINDING CASSETTE (ABC); LYSOSOMES; RESPIRATORY DISTRESS SYNDROME (RDS);

PROTEINS;

ABC TRANSPORTER; GREEN FLUORESCENT PROTEIN; PHOSPHATIDYLCHOLINE; PHOSPHATIDYLETHANOLAMINE; SMALL INTERFERING RNA; SPHINGOMYELIN; ABCA3 PROTEIN, HUMAN;

ARTICLE; HUMAN; HUMAN CELL; IN VIVO STUDY; LAMELLAR BODY; LUNG ALVEOLUS CELL TYPE 2; LYSOSOME; MEMBRANE VESICLE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME; BIOSYNTHESIS; CHEMISTRY; CONFOCAL MICROSCOPY; CULTURE TECHNIQUE; CYTOLOGY; DOWN REGULATION; ENDOPLASMIC RETICULUM; FETUS; GENE SILENCING; GENETICS; KIDNEY; LIPID METABOLISM; LUNG; LUNG ALVEOLUS; METABOLISM; MUTATION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PATHOPHYSIOLOGY; PRENATAL DEVELOPMENT; PROTEIN TRANSPORT;

ATP-BINDING CASSETTE TRANSPORTERS; CELL CULTURE TECHNIQUES; DOWN-REGULATION; ENDOPLASMIC RETICULUM; FETUS; GENE SILENCING; GREEN FLUORESCENT PROTEINS; HUMANS; INFANT, NEWBORN; KIDNEY; LIPID METABOLISM; LUNG; LYSOSOMES; MICROSCOPY, CONFOCAL; MUTATION; PHOSPHATIDYLCHOLINES; PROTEIN TRANSPORT; PULMONARY ALVEOLI; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RNA, SMALL INTERFERING;

EID: 33646897427     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M507515200     Document Type: Article

References (43)

1. Dean, M., Rzhetsky, A., and Allikmets, R. (2001) Genome Res. 11, 1156-1166
2. Peelman, F., Labeur, C., Vanloo, B., Roosbeek, S., Devaud, C., Duverger, N., Denefle, P., Rosier, M., Vandekerckhove, J., and Rosseneu, M. (2003) J. Mol. Biol. 325, 259-274
3. Oram, J. F. (2000) Biochim. Biophys. Acta 1529, 321-330
4. Sun, H., Smallwood, P. M., and Nathans, J. (2000) Nat. Genet. 26, 242-246
5. Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B., and Cremers, F. P. (2000) Am. J. Hum. Genet. 67, 960-966
6. Shulenin, S. Nogee, L. M., Annilo, T., Wert S. E, Whitsett, J. A., Dean, M. (2004) N. Engl. J. Med. 350, 10-17
7. Yamano, G., Funahashi, H., Kawanami, O., Zhao, L. X., Ban, N., Uchida, Y., Morohoshi, T., Ogawa, J., Shioda, S., and Inagaki, N. (2001) FEBS Lett. 508, 221-225
8. Mulugeta, S. Gray, J. M., Notarfrancesco, K. L., Gonzales, L. W., Koval, M. Feinstein, S. I., Ballard, P. L., Fisher, A. B., and Shuman, H. (2002) J. Biol. Chem. 277, 22147-22155
9. Nagata, K., Yamamoto, A., Ban, N., Tanaka, A. R., Matsuo, M., Kioka, N., Inagaki, N., and Ueda, K. (2004) Biochim. Biophys. Res. Commun. 324, 262-268
10. Bullard, J. E, Wert, S. E, Whitsett, J. A, Dean, M., and Nogee, L. M. (2005) Am. J. Respir. Crit. Care Med. 172, 1026-1031
11. Dobbs, L. G. (1989) Annu. Rev. Med. 40, 431-446
12. Rooney, S. A., Young, S. L., and Mendelson, C. R. (1994) FASEB J. 8, 957-967
13. Schmitz, G., and Muller, G. (1991) J. Lipid Res. 32, 1539-1570
14. Hamada, H., and Tsuruo, T. (1988) J. Biol. Chem. 263, 1454-1458
15. Gonzales, L. W., Guttentag, S. H., Wade, K. C., Postle, A. D., and Ballard, P. L. (2002) Am. J. Physiol. 283, L940-L951
16. Muller, W. J., Zen, K., Fisher, A. B., and Shuman, H. (1995) Am. J. Physiol. 269, L11-L19
17. Chinoy, M. R., Fisher, A. B., and Shuman, H. (1994) Am. J. Physiol. 266, L713-L721
18. Madesh, M., and Hajnoczky, G. (2001) J. Cell Biol. 155, 1003-1015
19. Zen, K., Notarfrancesco, K., Oorschot, V., Slot, J. W., Fisher, A. B., and Shuman, H. (1998) Am. J. Physiol. 275, L172-L183
20. Dell'Angelica, E. C, Mullins, C., Caplan, S., and Bonifacino, J. S. (2000) FASEB J. 14, 1265-1278
21. Hook, G. E. R., and Gilmore, L. B. (1982) J. Biol. Chem. 257, 9211-9220
22. Gibson, K. F., and Windnell, C. C. (1991) Am. J. Respir. Cell Mol. Biol. 4, 504-513
23. Wasano, K., and Hirakawa, Y. (1994) Histochemistry 102, 329-335
24. Weaver, T. E., Na, C.-L., and Stahlman, M. (2002) Semin. Cell Dev. Biol. 13, 263-270
25. Akasaki, K., Nakamura, N., Tsukui, N., Yokota, S., Murata, S., Katoh, R., Michihara, A., Tsuji, H., Marques, E. T., Jr., and August, J. T. (2004) Arch. Biochem. Biophys. 425, 147-157
26. Li, F., Rosenberg, E., Smith, C. I., Notarfrancesco, K., Reisher, S. R., Shuman, H., and Feinstein, S. I. (1995) Am. J. Physiol. 269, L241-L247
27. Nishibori, Y., Liu, L., Hosoyamada, M., Endou, H., Kudo, A., Takenaka, H., Higashihara, E., Bessho, F., Takahashi, S., Kershaw, D., Ruotsalainen, V., Tryggvason, K., Khoshnoodi, J., and Yan, K. (2004) Kidney Int. 66, 1755-1765
28. Sharma, M., Pampinella, F., Nemes, C., Benharouga, M., So, J., Du, K., Bache, K.G., Papsin, B., Zerangue, N., Stenmark, H., and Lukacs, G.L. (2004) J. Cell Biol. 164, 923-933
29. Liu, X. L., Done, S. C., Yan, K., Kilpelainen, P., Pikkarainen, T., Tryggvason, K. (2004) J. Am. Soc. Nephrol. 15, 1731-1738
30. Welch, W. J. (2004) Semin. Cell Dev. Biol. 15, 31-38
31. Lim, M., McKenzie, K., Floyd, A. D., Kwon, E., and Zeitlin, P. L. (2004) Am. J. Respir. Cell Mol. Biol. 31, 351-357
32. Foster, C. D., Zhang, P. X., Gonzales, L. W., and Guttentag, S. H. (2003) Am. J. Respir. Cell Mol. Biol. 29, 259-266
33. Tanaka, A. R., Abe-Dohmae, S., Ohnishi, T., Aoki, R., Morinaga, G., Okuhira, K., Ikeda, Y., Kano, F., Matsuo, M., Kioka, N., Amachi, T., Murata, M., Yokoyama, S., and Ueda, K. (2003) J. Biol. Chem. 278, 8815-8819
34. Wiszniewski, W., Zaremba, C. M., Yatsenko, A. N., Jamrich, M., Wensel, T. G., Lewis, R. A., and Lupski, J. R. (2005) Hum. Mol. Genet. 14, 2769-2778
35. Davidson, A. L., and Chen, J. (2004) Annu. Rev. Biochem. 73, 241-268
36. Allikmets, R. (1997) Nat. Genet. 15, 236-246
37. Bodzioch, M., Orso, E., Klucken, J., Langmann, T., Bottcher, A., Diederich, W., Drobnik, W., Barlage, S., Buchler, C., Porsch-Ozcurumez, M., Kaminski, W. E., Hahmann, H. W., Oette, K., Rothe, G., Aslanidis, C., Lackner, K. J., and Schmitz, G. (1999) Nat. Genet. 22, 347-351
38. Guo, Z., Inazu, A., Yu, W., Suzumura, T., Okamoto, M., Nohara, A., Higashikata, T., Sano, R., Wakasugi, K., Hayakawa, T., Yoshida, K., Suehiro, T., Schmitz, G., and Mabuchi, H. (2002) J. Hum. Genet. 47, 325-329
39. Loo, M. A., Jensen, T. J., Cui, L., Hou, Y., Chang, X. B., and Riordan, J. R. (1998)EMBO J. 17, 6879-6887
40. Choo-Kang, L. R., and Zeitlin P. L. (2001) Am. J. Physiol. 281, L58-L68
41. Okiyoneda, T., Harada, K., Takeya, M., Yamahira, K., Wada, I., Shuto, T., Suico, M. A., Hashimoto, Y., and Kai, H. (2004) Mol. Biol. Cell, 15, 563-574
42. Powell, K., and Zeitlin, P. L. (2002) Adv. Drug Delivery Rev. 54, 1395-1408
43. Schaller-Bals, S., Bates, S. R., Notarfrancesco, K., Tao, J. Q., Fisher, A. B., Shuman, H. (2000) Am. J. Physiol. 279, L631-L640