A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy

Journal of Biological Chemistry

Volumn 286, Issue 50, 2011, Pages 42949-42958

  Su, Jun ^a   Cao, Xu ^a   Wang, KeWei ^a,b  

^a PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^b PEKING UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ACCELERATED DEGRADATION; CHANNEL FUNCTIONS; CHANNEL MUTATIONS; FRAME-SHIFT MUTATION; GENE MUTATIONS; MUTANT PROTEINS; PROTEASOMES; PROTEIN TRAFFICKING;

AMINO ACIDS; DEGRADATION; ELECTROPHYSIOLOGY; GENES; MACHINERY; PEDIATRICS;

PROTEINS;

MESSENGER RNA; POTASSIUM CHANNEL KCNQ2; PROTEASOME; UBIQUITIN;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; MUTANT; NEUROPATHOLOGY; NONHUMAN; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN MOTIF; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION;

BLOTTING, WESTERN; CELL LINE; ELECTROPHYSIOLOGY; EPILEPSY; FRAMESHIFT MUTATION; HUMANS; KCNQ2 POTASSIUM CHANNEL; MICROSCOPY, CONFOCAL; MICROSCOPY, FLUORESCENCE; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 83355174049     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.287268     Document Type: Article

References (39)

1. Jentsch, T. J., Schroeder, B. C., Kubisch, C., Friedrich, T., and Stein, V. (2000) Epilepsia 41, 1068-1069
2. Psenka, T. M., and Holden, K. R. (1996) Seizure 5, 243-245
3. Ronen, G. M., Rosales, T. O., Connolly, M., Anderson, V. E., and Leppert, M. (1993) Neurology 43, 1355-1360
4. Charlier, C., Singh, N. A., Ryan, S. G., Lewis, T. B., Reus, B. E., Leach, R. J., and Leppert, M. (1998) Nat. Genet. 18, 53-55
5. Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J., and Steinlein, O. K. (1998) Science 279, 403-406
6. Schroeder, B. C., Kubisch, C., Stein, V., and Jentsch, T. J. (1998) Nature 396, 687-690
7. Wang, H. S., Pan, Z., Shi, W., Brown, B. S., Wymore, R. S., Cohen, I. S., Dixon, J. E., and McKinnon, D. (1998) Science 282, 1890-1893
8. Watanabe, H., Nagata, E., Kosakai, A., Nakamura, M., Yokoyama, M., Tanaka, K., and Sasai, H. (2000) J. Neurochem. 75, 28-33
9. Peters, H. C., Hu, H., Pongs, O., Storm, J. F., and Isbrandt, D. (2005) Nat. Neurosci. 8, 51-60
10. Volkers, L., Rook, M. B., Das, J. H., Verbeek, N. E., Groenewegen, W. A., van Kempen, M. J., Lindhout, D., and Koeleman, B. P. C. (2009) Neurosci. Lett. 462, 24-29
11. Richards, M. C., Heron, S. E., Spendlove, H. E., Scheffer, I. E., Grinton, B., Berkovic, S. F., Mulley, J. C., and Davy, A. (2004) J. Med. Genet. 41, e35
12. Peroz, D., Rodriguez, N., Choveau, F., Baró, I., Mérot, J., and Loussouarn, G. (2008) J. Physiol. 586, 1785-1789
13. Singh, N. A., Westenskow, P., Charlier, C., Pappas, C., Leslie, J., Dillon, J., Anderson, V. E., Sanguinetti, M. C., and Leppert, M. F. (2003) Brain 126, 2726-2737
14. Lerche, H., Biervert, C., Alekov, A. K., Schleithoff, L., Lindner, M., Klinger, W., Bretschneider, F., Mitrovic, N., Jurkat-Rott, K., Bode, H., Lehmann-Horn, F., and Steinlein, O. K. (1999) Ann. Neurol. 46, 305-312
15. Chung, H. J., Jan, Y. N., and Jan, L. Y. (2006) Proc. Natl. Acad. Sci. U. S. A. 103, 8870-8875
16. Soldovieri, M. V., Castaldo, P., Iodice, L., Miceli, F., Barrese, V., Bellini, G., Miraglia del Giudice, E., Pascotto, A., Bonatti, S., Annunziato, L., and Taglialatela, M. (2006) J. Biol. Chem. 281, 418-428
17. Ravid, T., and Hochstrasser, M. (2008) Nat. Rev. Mol. Cell Biol. 9, 679-690
18. Schrader, E. K., Harstad, K. G., and Matouschek, A. (2009) Nat. Chem. Biol. 5, 815-822
19. Jow, F., and Wang, K. (2000) Brain Res. Mol. Brain Res. 80, 269-278
20. Ekberg, J., Schuetz, F., Boase, N. A., Conroy, S. J., Manning, J., Kumar, S., Poronnik, P., and Adams, D. J. (2007) J. Biol. Chem. 282, 12135-12142
21. Tasaki, T., and Kwon, Y. T. (2007) Trends Biochem. Sci. 32, 520-528
22. Li, X., and Coffino, P. (1993) Mol. Cell. Biol. 13, 2377-2383
23. Meusser, B., Hirsch, C., Jarosch, E., and Sommer, T. (2005) Nat. Cell Biol. 7, 766-772
24. Vembar, S. S., and Brodsky, J. L. (2008) Nat. Rev. Mol. Cell Biol. 9, 944-957
25. Chen, H., MacDonald, A., and Coffino, P. (2002) J. Biol. Chem. 277, 45957-45961
26. Fölsch, H., Ohno, H., Bonifacino, J. S., and Mellman, I. (1999) Cell 99, 189-198
27. Yamauchi, A., Yomo, T., Tanaka, F., Prijambada, I. D., Ohhashi, S., Yamamoto, K., Shima, Y., Ogasahara, K., Yutani, K., Kataoka, M., and Urabe, I. (1998) FEBS Lett 421, 147-151
28. Doi, N., and Yanagawa, H. (1998) Cell. Mol. Life Sci. 54, 394-404
29. Doi, N., Kakukawa, K., Oishi, Y., and Yanagawa, H. (2005) Protein Eng. Des. Sel. 18, 279-284
30. Fuxreiter, M., Tompa, P., and Simon, I. (2007) Bioinformatics 23, 950-956
31. Dyson, H. J., and Wright, P. E. (2005) Nat. Rev. Mol. Cell Biol. 6, 197-208
32. Prakash, S., Tian, L., Ratliff, K. S., Lehotzky, R. E., and Matouschek, A. (2004) Nat. Struct. Mol. Biol. 11, 830-837
33. Komaru, K., Ishida, Y., Amaya, Y., Goseki-Sone, M., Orimo, H., and Oda, K. (2005) FEBS J. 272, 1704-1717
34. Ferrington, D. A., Sun, H., Murray, K. K., Costa, J., Williams, T. D., Bigelow, D. J., and Squier, T. C. (2001) J. Biol. Chem. 276, 937-943
35. Kurepa, J., and Smalle, J. A. (2008) Plant Signal. Behav. 3, 386-388
36. Kamsteeg, E. J., Bichet, D. G., Konings, I. B., Nivet, H., Lonergan, M., Arthus, M. F., van Os, C. H., and Deen, P. M. (2003) J. Cell Biol. 163, 1099-1109
37. Ohno, H., Fournier, M. C., Poy, G., and Bonifacino, J. S. (1996) J. Biol. Chem. 271, 29009-29015
38. Nesterov, A., Carter, R. E., Sorkina, T., Gill, G. N., and Sorkin, A. (1999) EMBO J. 18, 2489-2499
39. Hunziker, W., Harter, C., Matter, K., and Mellman, I. (1991) Cell 66, 907-920