Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII

Journal of Biological Chemistry

Volumn 284, Issue 44, 2009, Pages 30248-30256

  Fritsch, Anja ^a   Spassov, Sashko ^a   Elfert, Susanne ^a,b   Schlosser, Andreas ^b   Gache, Yannick ^c   Meneguzzi, Guerrino ^c   Bruckner Tuderman, Leena ^a,b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AFFINITY PURIFICATION; CO-EXPRESSION; EPIDERMOLYSIS; GENE PRODUCTS; HELICAL MOLECULES; HELIX-TO-COIL TRANSITIONS; INTRACELLULAR RETENTION; MOLECULAR MECHANISM; NATURALLY OCCURRING; OVER-EXPRESSION; RECOMBINANT EXPRESSION; THERMAL STABILITY; TRIPLE-HELICES; TRYPSIN DIGESTION; WILD TYPES;

ADHESION; CELL ADHESION; MASS SPECTROMETRY; MOLECULES; PLANTS (BOTANY); SKIN; THERMODYNAMIC STABILITY;

COLLAGEN;

COLLAGEN TYPE 7; MUTANT PROTEIN; PROTEIN COL7A1; TRYPSIN; UNCLASSIFIED DRUG;

ARTICLE; CELL ADHESION; COMPLEX FORMATION; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE ACTIVITY; GENE EXPRESSION REGULATION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; MASS SPECTROMETRY; MOLECULAR MECHANICS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PURIFICATION; PROTEIN STABILITY; TEMPERATURE SENSITIVITY; THERMOSTABILITY; WILD TYPE;

CELL ADHESION; CELL LINE; COLLAGEN TYPE VII; HUMANS; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN CONFORMATION; PROTEIN STABILITY; SKIN; TRANSITION TEMPERATURE;

EID: 71049190003     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.045294     Document Type: Article

References (34)

1. Kern, J. S., and Has, C. (2008) Expert. Rev. Dermatol. 3, 721-733
2. Fine, J. D., Eady, R. A., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., and Zambruno, G. (2008) J. Am. Acad. Dermatol. 58, 931-950
3. Rattenholl, A., Pappano, W. N., Koch, M., Keene, D. R., Kadler, K. E., Sasaki, T., Timpl, R., Burgeson, R. E., Greenspan, D. S., and Bruckner-Tuderman, L. (2002) J. Biol. Chem. 277, 26372-26378
4. Burgeson, R. E. (1993) J. Invest. Dermatol. 101, 252-255
5. Kadler, K. E., Baldock, C., Bella, J., and Boot-Handford, R. P. (2007) J. Cell Sci. 120, 1955-1958
6. Schröder, M. (2008) Cell Mol. Life Sci. 65, 862-894
7. Goto, M., Sawamura, D., Nishie, W., Sakai, K., McMillan, J. R., Akiyama, M., and Shimizu, H. (2006) J. Invest. Dermatol. 126, 2614-2620
8. Hengge, U. R. (2008) J. Invest. Dermatol. 128, 499-500
9. Cao, T., Longley, M. A., Wang, X. J., and Roop, D. R. (2001) J. Cell Biol. 152, 651-656
10. Fritsch, A., Loeckermann, S., Kern, J. S., Braun, A., Bösl, M. R., Bley, T. A., Schumann, H., von, Elverfeldt, D., Paul, D., Erlacher, M., Berens von, Rautenfeld, D., Hausser, I., Fässler, R., and Bruckner-Tuderman, L. (2008) J. Clin. Invest. 118, 1669-1679
11. Dharma, B., Moss, C., McGrath, J. A., Mellerio, J. E., and Ilchyshyn, A. (2001) Clin. Exp. Dermatol. 26, 93-96
12. Hammami-Hauasli, N., Schumann, H., Raghunath, M., Kilgus, O., Lüthi, U., Luger, T., and Bruckner-Tuderman, L. (1998) J. Biol. Chem. 273, 19228-19234
13. Villone, D., Fritsch, A., Koch, M., Bruckner-Tuderman, L., Hansen, U., and Bruckner, P. (2008) J. Biol. Chem. 283, 24506-24513
14. Vindevoghel, L., Chung, K. Y., Davis, A., Kouba, D., Kivirikko, S., Alder, H., Uitto, J., and Mauviel, A. (1997) J. Biol. Chem. 272, 10196-10204
15. Mecklenbeck, S., Compton, S. H., Mejía, J. E., Cervini, R., Hovnanian, A., Bruckner-Tuderman, L., and Barrandon, Y. (2002) Hum. Gene Ther. 13, 1655-1662
16. Bruckner-Tuderman, L., Nilssen, O., Zimmermann, D. R., Dours-Zimmermann, M. T., Kalinke, D. U., Gedde-Dahl, T., Jr., and Winberg, J. O. (1995) J. Cell Biol. 131, 551-559
17. Woodley, D. T., Hou, Y., Martin, S., Li, W., and Chen, M. (2008) J. Biol. Chem. 283, 17838-17845
18. Bruckner, P., and Prockop, D. J. (1981) Anal. Biochem. 110, 360-368
19. Chen, M., Marinkovich, M. P., Veis, A., Cai, X., Rao, C. N., O'Toole, E. A., and Woodley, D. T. (1997) J. Biol. Chem. 272, 14516-14522
20. Gould, D. B., Phalan, F. C., Breedveld, G. J., van Mil, S. E., Smith, R. S., Schimenti, J. C., Aguglia, U., van der Knaap, M. S., Heutink, P., and John, S. W. (2005) Science 308, 1167-1171
21. Myllyharju, J., and Kivirikko, K. I. (2004) Trends Genet. 20, 33-43
22. Marini, S., Fasciglione, G. F., de Sanctis, G., D'Alessio, S., Politi, V., and Coletta, M. (2000) J. Biol. Chem. 275, 18657-18663
23. Hyde, T. J., Bryan, M. A., Brodsky, B., and Baum, J. (2006) J. Biol. Chem. 281, 36937-36943
24. Persikov, A. V., Pillitteri, R. J., Amin, P., Schwarze, U., Byers, P. H., and Brodsky, B. (2004) Hum. Mutat. 24, 330-337
25. Makareeva, E., Mertz, E. L., Kuznetsova, N. V., Sutter, M. B., DeRidder, A. M., Cabral, W. A., Barnes, A. M., McBride, D. J., Marini, J. C., and Leikin, S. (2008) J. Biol. Chem. 283, 4787-4798
26. Xu, K., Nowak, I., Kirchner, M., and Xu, Y. (2008) J. Biol. Chem. 283, 34337-34344
27. Pace, R. A., Peat, R. A., Baker, N. L., Zamurs, L., Mörgelin, M., Irving, M., Adams, N. E., Bateman, J. F., Mowat, D., Smith, N. J., Lamont, P. J., Moore, S. A., Mathews, K. D., North, K. N., and Lamandé, S. R. (2008) Ann. Neurol. 64, 294-303
28. Kern, J. S., Kohlhase, J., Bruckner-Tuderman, L., and Has, C. (2006) J. Invest. Dermatol. 126, 1006-1012
29. Mecklenbeck, S., Hammami-Hauasli, N., Höpfner, B., Schumann, H., Kramer, A., Küster, W., and Bruckner-Tuderman, L. (1999) J. Invest Dermatol. 112, 398-400
30. Gache, Y., Baldeschi, C., Del Rio, M., Gagnoux-Palacios, L., Larcher, F., Lacour, J. P., and Meneguzzi, G. (2004) Hum. Gene Ther. 15, 921-933
31. Mavilio, F., Pellegrini, G., Ferrari, S., Di Nunzio, F., Di Iorio, E., Recchia, A., Maruggi, G., Ferrari, G., Provasi, E., Bonini, C., Capurro, S., Conti, A., Magnoni, C., Giannetti, A., and De Luca, M. (2006) Nat. Med. 12, 1397-1402
32. Conese, M., Auriche, C., and Ascenzioni, F. (2004) Gene Ther. 11, 1735-1741
33. Ortiz-Urda, S., Thyagarajan, B., Keene, D. R., Lin, Q., Fang, M., Calos, M. P., and Khavari, P. A. (2002) Nat. Med. 8, 1166-1170
34. Kern, J. S., Loeckermann, S., Fritsch, A., Hausser, I., Roth, W., Magin, T. M., Mack, C., Muller, M. L., Paul, O., Ruther, P., and Bruckner-Tuderman, L. (2009) Mol. Ther. 17, 1605-1615