Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome

Journal of Biological Chemistry

Volumn 278, Issue 51, 2003, Pages 51779-51785

  Bendahhou, Saïd ^a,c   Donaldson, Matthew R ^a   Plaster, Nikki M ^a   Tristani Firouzi, Martin ^b   Fu, Ying Hui ^b   Ptácek, Louis J ^a,b  

^a UNIVERSITY OF UTAH   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITÉ CÔTE D'AZUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELLS; DISEASES; GENES; MUSCLE;

CONFOCAL MICROSCOPY;

CARDIOLOGY;

INWARDLY RECTIFYING POTASSIUM CHANNEL; POTASSIUM CHANNEL; PROTEIN; PROTEIN KIR2.1; UNCLASSIFIED DRUG;

ANDERSON TAWIL SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DEVELOPMENT; BONE DISEASE; CONFOCAL MICROSCOPY; GENE; GENE MUTATION; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 4; HEART DISEASE; HUMAN; HUMAN CELL; KCNJ2 GENE; POTASSIUM CHANNEL KIR 2.1; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FAMILY; SYNDROME;

AMINO ACID SUBSTITUTION; CELL LINE; ELECTROPHYSIOLOGY; HUMANS; LONG QT SYNDROME; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN TRANSPORT; TRANSFECTION;

EID: 0347064347     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M310278200     Document Type: Article

References (43)

1. Andersen, E. D., Krasilnikoff, P. A., and Overvad, H. (1971) Acta Paediatr. Scand. 60, 559-564
2. Tawil, R., Ptacek, L. J., Pavlakis, S. G., DeVivo, D. C., Penn, A. S., Ozdemir, C., and Griggs, R. C. (1994) Ann. Neurol. 35, 326-330
3. Sansone, V., Griggs, R. C., Meola, G., Ptacek, L. J., Barohn, R., Iannaccone, S., Bryan, W., Baker, N., Janas, S. J., Scott, W., Ririe, D., and Tawil, R. (1997) Ann. Neurol. 42, 305-312
4. Doupnik, C. A., Davidson, N., and Lester, H. A. (1995) Curr. Opin. Neurobiol. 5, 268-277
5. Yang, J., Jan, Y. N., and Jan, L. Y. (1995) Neuron 15, 1441-1447
6. Yano, H., Philipson, L. H., Kugler, J. L., Tokuyama, Y., Davis, E. M., Le Beau, M. M., Nelson, D. J., Bell, G. I., and Takeda, J. (1994) Mol. Pharmacol. 45, 854-860
7. Raab-Graham, K. F., Radeke, C. M., and Vandenberg, C. A. (1994) Neuroreport 5, 2501-2505
8. Stoffel, M., Espinosa, R., 3rd, Powell, K. L., Philipson, L. H., Le Beau, M. M., and Bell, G. I. (1994) Genomics 21, 254-256
9. Sakura, H., Bond, C., Warren-Perry, M., Horsley, S., Kearney, L., Tucker, S., Adelman, J., Turner, R., and Ashcroft, F. M. (1995) FEBS Lett. 367, 193-197
10. Lesage, F., Fink, M., Barhanin, J., Lazdunski, M., and Mattei, M. G. (1995) Genomics 29, 808-809
11. Tucker, S. J., James, M. R., and Adelman, J. P. (1995) Genomics 28, 127-128
12. Inagaki, N., Gonoi, T., Clement, J. P. t., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., and Bryan, J. (1995) Science 270, 1166-1170
13. Simon, D. B., Karet, F. E., Rodriguez-Soriano, J., Hamdan, J. H., DiPietro, A., Trachtman, H., Sanjad, S. A., and Lifton, R. P. (1996) Nat. Genet. 14, 152-156
14. Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., and Bryan, J. (1995) Science 268, 426-429
15. Thomas, P., Ye, Y., and Lightner, E. (1996) Hum. Mol. Genet. 5, 1809-1812
16. Patil, N., Cox, D. R., Bhat, D., Faham, M., Myers, R. M., and Peterson, A. S. (1995) Nat. Genet. 11, 126-129
17. Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., George, A. L., Fish, F. A., Hahn, A., Nitu, A., Ozdemir, C., Serdaroglu, P., Subramony, S. H., Wolfe, G., Fu, Y., and Ptacek, L. J. (2001) Cell 105, 511-519
18. Tristani-Firouzi, M., Jensen, J. L., Donaldson, M. R., Sansone, V., Meola, G., Hahn, A., Bendahhou, S., Kwiecinski, H., Fidzianska, A., Plaster, N., Fu, Y.-H., Ptacek, L. J., and Tawil, R. (2002) J. Clin. Invest. 110, 381-388
19. Donaldson, M. R., Jensen, J. L., Tristani-Firouzi, M., Tawil, R., Bendahhou, S., Suarez, W. A., Cobo, A. M., Poza, J. J., Behr, E., Wagstaff, J., Szepetowski, P., Pereira, S., Mozaffar, T., Escolar, D. M., Fu, Y.-H., and Ptacek, L. J. (2003) Neurology 60, 1811-1816
20. Graham, F. L., and Van Der Eb, A. J. (1973) Virology 52, 456-467
21. Bendahhou, S., Cummins, T. R., Tawil, R., Waxman, S. G., and Ptacek, L. J. (1999) J. Neurosci. 19, 4762-4771
22. Hamill, O. P., Marty, A., Neher, E., Sakmann, B., and Sigworth, F. J. (1981) Pflügers Arch. 391, 85-100
23. Kubo, Y., and Murata, Y. (2001) J. Physiol. (Lond.) 531, 645-660
24. Kuo, A., Gulbis, J. M., Antcliff, J. F., Rahman, T., Lowe, E. D., Zimmer, J., Cuthbertson, J., Ashcroft, F. M., Ezaki, T., and Doyle, D. A. (2003) Science 300, 1922-1926
25. Tinker, A., Jan, Y. N., and Jan, L. Y. (1996) Cell 87, 857-868
26. Umigai, N., Sato, Y., Mizutani, A., Utsumi, T., Sakaguchi, M., and Uozumi, N. (2003) J. Biol. Chem. 278, 40373-40384
27. Wischmeyer, E., and Karschin, A. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 5819-5823
28. Nehring, R. B., Wischmeyer, E., Doring, F., Veh, R. W., Sheng, M., and Karschin, A. (2000) J. Neurosci. 20, 156-162
29. Tong, Y., Brandt, G. S., Li, M., Shapovalov, G., Slimko, E., Karschin, A., Dougherty, D. A., and Lester, H. A. (2001) J. Gen. Physiol. 117, 103-118
30. Ma, D., Zerangue, N., Lin, Y. F., Collins, A., Yu, M., Jan, Y. N., and Jan, L. Y. (2001) Science 291, 316-319
31. Stockklausner, C., Ludwig, J., Ruppersberg, J. P., and Klocker, N. (2001) FEBS Lett. 493, 129-133
32. Soom, M., Schonherr, R., Kubo, Y., Kirsch, C., Klinger, R., and Heinemann, S. H. (2001) FEBS Lett. 490, 49-53
33. Hilgemann, D. W., and Ball, R. (1996) Science 273, 956-959
34. Huang, C. L., Feng, S., and Hilgemann, D. W. (1998) Nature 391, 803-806
35. Zhang, H., He, C., Yan, X., Mirshahi, T., and Logothetis, D. E. (1999) Nat. Cell Biol. 1, 183-188
36. Chen, L., Kawano, T., Bajic, S., Kaziro, Y., Itoh, H., Art, J. J., Nakajima, Y., and Nakajima, S. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 8430-8435
37. Lopes, C. M., Zhang, H., Rohacs, T., Jin, T., Yang, J., and Logothetis, D. E. (2002) Neuron 34, 933-944
38. Hille, B. (1992) Ionic Channels in Excitable Membranes, 2nd Ed., Sinauer, Sunderland, MA
39. Nichols, C. G., and Lopatin, A. N. (1997) Annu. Rev. Physiol. 59, 171-191
40. Ma, D., Zerangue, N., Raab-Graham, K., Fried, S. R., Jan, Y. N., and Jan, L. Y. (2002) Neuron 33, 715-729
41. Preisig-Muller, R., Schlichthorl, G., George, T., Heinen, S., Bruggemann, A., Rajan, S., Derst, C., Veh, R. W., and Daut, J. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 7774-7779
42. Mohler, P. J., Schott, J. J., Gramolini, A. O., Dilly, K. W., Guatimosim, S., DuBell, W. H., Song, L. S., Haurogne, K., Kyndt, F., Ali, M. E., Rogers, T. B., Lederer, W. J., Escande, D., Le Marec, H., and Bennett, V. (2003) Nature 421, 634-639
43. Sampson, L. J., Leyland, M. L., and Dart, C. (2003) J. Biol. Chem. 278, 41988-41997