Endoplasmic reticulum retention and associated degradation of a GABA A receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the α1 subunit

Journal of Biological Chemistry

Volumn 280, Issue 45, 2005, Pages 37995-38004

  Gallagher, Martin J ^a   Shen, Wangzhen ^a   Song, Luyan ^a   Macdonald, Robert L ^a,b  

^a VANDERBILT UNIVERSITY   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; DEGRADATION; GENETIC ENGINEERING; HYDROPHOBICITY; IMAGING TECHNIQUES; MUTAGENESIS; PERMSELECTIVE MEMBRANES; PROTEINS;

ASPARTATE; CONFOCAL MICROSCOPIC IMAGING; EPILEPSY MUTATIONS; OLIGOMERIZATION;

CYTOLOGY;

4 AMINOBUTYRIC ACID A ALPHA1 RECEPTOR; 4 AMINOBUTYRIC ACID A BETA2 RECEPTOR; 4 AMINOBUTYRIC ACID A GAMMA2 RECEPTOR; 4 AMINOBUTYRIC ACID A RECEPTOR; ASPARTIC ACID; CYAN FLUORESCENT PROTEIN; ENDOGLYCOSIDASE H; GLYCOSIDASE; MEMBRANE PROTEIN; MUTANT PROTEIN; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG; YELLOW FLUORESCENT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CELL MEMBRANE; CELL SURFACE; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DEGLYCOSYLATION; ENDOPLASMIC RETICULUM; EPILEPSY; GENE INSERTION; GENE MUTATION; HETEROLOGOUS EXPRESSION; HUMAN; HUMAN CELL; HYDROPHOBICITY; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; RECEPTOR DENSITY; RNA TRANSLATION; WILD TYPE;

AMINO ACID SUBSTITUTION; ASPARTIC ACID; CELL MEMBRANE; CELLS, CULTURED; ENDOPLASMIC RETICULUM; GENE EXPRESSION REGULATION; HUMANS; KIDNEY; MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN TRANSPORT; RECEPTORS, GABA-A;

MAMMALIA;

EID: 27844480081     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M508305200     Document Type: Article

References (42)

1. Macdonald, R. L., and Olsen, R. W. (1994) Annu. Rev. Neurosci. 17, 569-602
2. McKernan, R. M., and Whiting, P. J. (1996) Trends Neurosci. 19, 139-143
3. Tretter, V., Ehya, N., Fuchs, K., and Sieghart, W. (1997) J. Neurosci. 17, 2728-2737
4. Baumann, S. W., Baur, R., and Sigel, E. (2001) J. Biol. Chem. 276, 36275-36280
5. Baumann, S. W., Baur, R., and Sigel, E. (2002) J. Biol. Chem. 277, 46020-46025
6. Miyazawa, A., Fujiyoshi, Y., and Unwin, N. (2003) Nature 424, 949-955
7. Cossette, P., Liu, L., Brisebois, K., Dong, H., Lortie, A., Vanasse, M., Saim-Hilaire, J. M., Carmant, L., Verner, A., Lu, W. Y., Wang, Y. T., and Rouleau, G. A. (2002) Nat. Genet. 31, 184-189
8. Genton, P., and Gelisse, P. (2001) Arch. Neurol. 58, 1487-1490
9. Fisher, J. L. (2004) Neuropharmacology 46, 629-637
10. Gallagher, M. J., Song, L., Arain, F., and Macdonald, R. L. (2004) J. Neurosci. 24, 5570-5578
11. Kang, J., and Macdonald, R. L. (2004) J. Neurosci. 24, 8672-8677
12. Greenfield, L. J., Jr., Sun, F., Neelands, T. R., Burgard, E. C., Donnelly, J. L., and Macdonald, R. L. (1997) Neuropharmacology 36, 63-73
13. Chiara, D. C., and Cohen, J. B. (1997) J. Biol. Chem. 272, 32940-32950
14. Bolte, S., Brown, S., and Satiat-Jeunemaitre, B. (2004) J. Cell Sci. 117, 943-954
15. Crameri, A., Whitehorn, E. A., Tate, E., and Stemmer, W. P. (1996) Nat Biotechnol. 14, 315-319
16. Hinkle, D. J., Bianchi, M. T., and Macdonald, R. L. (2003) BioTechniques 35, 472-474, 476
17. Connolly, C. N., Krishek, B. J., McDonald, B. J., Smart, T. G., and Moss, S. J. (1996) J. Biol. Chem. 271, 89-96
18. Klausberger, T., Sarto, I., Ehya, N., Fuchs, K., Furtmuller, R., Mayer, B., Huck, S., and Sieghart, W. (2001) J. Neurosci. 21, 9124-9133
19. Klausberger, T., Ehya, N., Fuchs, K., Fuchs, T., Ebert, V., Sarto, I., and Sieghart, W. (2001) J. Biol. Chem. 276, 16024-16032
20. Klausberger, T., Fuchs, K., Mayer, B., Ehya, N., and Sieghart, W. (2000) J. Biol. Chem. 275, 8921-8928
21. Bollan, K., King, D., Robertson, L. A., Brown, K., Taylor, P. M., Moss, S. J., and Connolly, C. N. (2003) J. Biol. Chem. 278, 4747-4755
22. Taylor, P. M., Thomas, P., Gorrie, G. H., Connolly, C. N., Smart, T. G., and Moss, S. J. (1999) J. Neurosci. 19, 6360-6371
23. Taylor, P. M., Connolly, C. N., Kittler, J. T., Gorrie, G. H., Hosie, A., Smart, T. G., and Moss, S. J. (2000) J. Neurosci. 20, 1297-1306
24. Gorrie, G. H., Vallis, Y., Stephenson, A., Whitfield, J., Browning, B., Smart, T. G., and Moss, S. J. (1997) J. Neurosci. 17, 6587-6596
25. Buller, A. L., Hastings, G. A., Kirkness, E. F., and Fraser, C. M. (1994) Mol. Pharmacol. 46, 858-865
26. Helenius, A., and Aebi, M. (2004) Annu. Rev. Biochem. 73, 1019-1049
27. Matsuda, S., Hannen, R., Matsuda, K., Yamada, N., Tubbs, T., and Yuzaki, M. (2004) Eur. J. Neurosci. 19, 1683-1690
28. Kittler, J. T., Wang, J., Connolly, C. N., Vicini, S., Smart, T. G., and Moss, S. J. (2000) Mol. Cell. Neurosci. 16, 440-452
29. Connor, J. X., Boileau, A. J., and Czajkowski, C. (1998) J. Biol. Chem. 273, 28906-28911
30. Krampfl, K., Maljevic, S., Cossette, P., Ziegler, E., Rouleau, G. A., Lerche, H., and Bufler J. (2005) Eur. J. Neurosci. 22, 10-20
31. Bianchi, M. T., Song, L., Zhang, H., and Macdonald, R. L. (2002) J. Neurosci. 22, 5321-5327
32. Dibbens, L. M., Feng, H. J., Richards, M. C., Harkin, L. A., Hodgson, B. L., Scott, D., Jenkins, M., Petrou, S., Sutherland, G. R., Scheffer, I. E., Berkovic, S. F., Macdonald, R. L., and Mulley, J. C. (2004) Hum. Mol. Genet. 13, 1315-1319
33. Sancar, F., and Czajkowski, C. (2004) J. Biol. Chem. 279, 47034-47039
34. Hales, T. G., Tang, H., Bollan, K. A., Johnson, S. J., King, D. P., McDonald, N. A., Cheng, A., and Connolly, C. N. (2005) Mol. Cell. Neurosci. 29, 120-127
35. Hampton, R. Y. (2002) Curr. Opin. Cell Biol. 14, 476-482
36. Hirsch, C., Jarosch, E., Sommer, T., and Wolf, D. H. (2004) Biochim. Biophys. Acta 1695, 215-223
37. Caputo, G. A., and London, E. (2004) Biochemistry 13, 8794-8806
38. Gregersen, N., Bross, P., Jorgensen, M. M., Corydon, T. J., and Andresen, B. S. (2000) J. Inherit. Metab. Dis. 23, 441-447
39. Amaral, M. D. (2004) J. Mol. Neurosci. 23, 41-48
40. Kralic, J. E., Korpi, E. R., O'Buckley, T. K., Homanics, G. E., and Morrow, A. L. (2002) J. Pharmacol. Exp. Ther. 302, 1037-1045
41. Kralic, J. E., O'Buckley, T. K., Khisti, R. T., Hodge, C. W., Homanics, G. E., and Morrow, A. L. (2002) Neuropharmacology 43, 685-694
42. Vicini, S., Ferguson, C., Prybylowski, K., Kralic, J., Morrow, A. L., and Homanics, G. E. (2001) J. Neurosci. 21, 3009-3016