Misfolding, degradation, and aggregation of variant proteins: The Molecular Pathogenesis of Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Journal of Biological Chemistry

Volumn 278, Issue 48, 2003, Pages 47449-47458

  Pedersen, Christina Bak ^a,b   Bross, Peter ^a   Winter, Vibeke Stenbroen ^a   Corydon, Thomas Juhl ^b   Bolund, Lars ^b   Bartlett, Kim ^c   Vockley, Jerry ^d   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGGLOMERATION; CONFORMATIONS; DEGRADATION; FATTY ACIDS; GENES; METABOLISM; PROTEINS;

MOLECULAR PATHOGENESIS;

BIOCHEMISTRY;

ACYL COENZYME A DEHYDROGENASE; CHAPERONIN; HEAT SHOCK PROTEIN 60; MITOCHONDRIAL PROTEIN;

ACYL COENZYME A DEHYDROGENASE DEFICIENCY; ANIMAL CELL; ARTICLE; ENZYME ACTIVITY; FATTY ACID METABOLISM; GENETIC SUSCEPTIBILITY; METABOLIC DISORDER; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN PROCESSING; QUALITY CONTROL; TEMPERATURE SENSITIVITY;

ANIMALS; APYRASE; BLOTTING, WESTERN; BUTYRYL-COA DEHYDROGENASE; CHAPERONIN 60; DETERGENTS; DNA, COMPLEMENTARY; DOSE-RESPONSE RELATIONSHIP, DRUG; GENOTYPE; LIPID METABOLISM, INBORN ERRORS; MICE; MICE, INBRED BALB C; MITOCHONDRIA; MODELS, BIOLOGICAL; MODELS, MOLECULAR; OCTOXYNOL; OLIGOMYCINS; PLASMIDS; PROTEIN BIOSYNTHESIS; PROTEIN CONFORMATION; PROTEIN FOLDING; TEMPERATURE; TIME FACTORS; TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

ANIMALIA; PRIACANTHUS HAMRUR;

EID: 0347481388     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M309514200     Document Type: Article

References (47)

1. Ikeda, Y., Okamura-Ikeda, K., and Tanaka, K. (1985) J. Biol. Chem. 260, 1311-1325
2. Naito, E., Ozasa, H., Ikeda, Y., and Tanaka, K. (1989) J. Clin. Invest. 83, 1605-1613
3. Amendt, B. A., Greene, C., Sweetman, L., Cloherty, J., Shih, V., Moon, A., Teel, L., and Rhead, W. J. (1987) J. Clin. Invest. 79, 1303-1309
4. Seidel, J., Streck, S., Bellstedt, K., Vianey-Saban, C., Pedersen, C. B., Vockley, J., Korall, H., Roskos, M., Deufel, T., Trefz, K. F., Sewell, A. C., Kauf, E., Zintl, F., Lehnert, W., and Gregersen, N. (2003) J. Inherit. Metab Dis. 26, 37-42
5. Coates, P. M., Hale, D. E., Finocchiaro, G., Tanaka, K., and Winter, S. C. (1988) J. Clin. Invest. 81, 171-175
6. Sewell, A. C., Herwig, J., Bohles, H., Rinaldo, P., Bhala, A., and Hale, D. E. (1993) Eur. J. Pediatr. 152, 922-924
7. Bhala, A., Willi, S. M., Rinaldo, P., Bennett, M. J., Schmidt-Sommerfeld, E., and Hale, D. E. (1995) J. Pediatr. 126, 910-915
8. Dawson, D. B., Waber, L., Hale, D. E., and Bennett, M. J. (1995) J. Pediatr. 126, 69-71
9. Baerlocher, K. E., Steinmann, B., Aguzzi, A., Krahenbuhl, S., Roe, C. R., and Vianey-Saban, C. (1997) J. Inherit. Metab. Dis. 20, 427-431
10. Ribes, A., Riudor, E., Garavaglia, B., Martinez, G., Arranz, A., Invernizzi, F., Briones, P., Lamantea, E., Sentis, M., Barcelo, A., and Roig, M. (1998) Eur. J. Pediatr. 157, 317-320
11. Tein, I., Haslam, R. H., Rhead, W. J., Bennett, M. J., Becker, L. E., and Vockley, J. (1999) Neurology 52, 366-372
12. Corydon, M. J., Vockley, J., Rinaldo, P., Rhead, W. J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J., de Jong, J., Levy, H., Sewell, A. C., Roe, C., Matern, D., Dasouki, M., and Gregersen, N. (2001) Pediatr. Res. 49, 18-23
13. Matern, D., Hart, P., Murtha, A. P., Vockley, J., Gregersen, N., Millington, D. S., and Treem, W. R. (2001) J. Pediatr. 138, 585-588
14. Hegre, C. S., Halenz, D. R., and Lane, M. D. (1959) J. Am. Chem. Soc. 84, 6526-6527
15. Naito, E., Indo, Y., and Tanaka, K. (1989) J. Clin. Invest. 84, 1671-1674
16. Naito, E., Indo, Y., and Tanaka, K. (1990) J. Clin. Invest. 85, 1575-1582
17. Gregersen, N., Winter, V. S., Corydon, M. J., Corydon, T. J., Rinaldo, P., Ribes, A., Martinez, G., Bennett, M. J., Vianey-Saban, C., Bhala, A., Hale, D. E., Lehnert, W., Kmoch, S., Roig, M., Riudor, E., Eiberg, H., Andresen, B. S., Bross, P., Bolund, L. A., and Kolvraa, S. (1998) Hum. Mol. Genet. 7, 619-627
18. Corydon, M. J., Gregersen, N., Lehnert, W., Ribes, A., Rinaldo, P., Kmoch, S., Christensen, E., Kristensen, T. J., Andresen, B. S., Bross, P., Winter, V., Martinez, G., Neve, S., Jensen, T. G., Bolund, L., and Kolvraa, S. (1996) Pediatr. Res. 39, 1059-1066
19. Nguyen, T. V., Riggs, C., Babovic-Vuksanovic, D., Kim, Y. S., Carpenter, J. F., Burghardt, T. P., Gregersen, N., and Vockley, J. (2002) Biochemistry 41, 11126-11133
20. Corydon, T. J., Bross, P., Jensen, T. G., Corydon, M. J., Lund, T. B., Jensen, U. B., Kim, J. J., Gregersen, N., and Bolund, L. (1998) J. Biol. Chem. 273, 13065-13071
21. Gregersen, N., Bross, P., Andresen, B. S., Pedersen, C. B., Corydon, T. J., and Bolund, L. (2001) J. Inherit. Metab. Dis. 24, 189-212
22. Saijo, T., Welch, W. J., and Tanaka, K. (1994) J. Biol. Chem. 269, 4401-4408
23. Yokota, I., Saijo, T., Vockley, J., and Tanaka, K. (1992) J. Biol. Chem. 267, 26004-26010
24. Bross, P., Jespersen, C., Jensen, T. G., Andresen, B. S., Kristensen, M. J., Winter, V., Nandy, A., Krautle, F., Ghisla, S., and Bolundi, L. (1995) J. Biol. Chem. 270, 10284-10290
25. Zhao, Q., Wang, J., Levichkin, I. V., Stasinopoulos, S., Ryan, M. T., and Hoogenraad, N. J. (2002) EMBO J. 21, 4411-4419
26. Wood, P. A., Amendt, B. A., Rhead, W. J., Millington, D. S., Inoue, F., and Armstrong, D. (1989) Pediatr. Res. 25, 38-43
27. Bross, P., Winter, V., Pedersen, C. B., and Gregersen, N. (2003) in Protein Misfolding and Disease: Principles and Protocols (Bross, P., and Gregersen, N., eds) pp. 285-293, Humana Press Inc., Totowa, New Jersey
28. Gregersen, N. (1979) Pediatr. Res. 13, 1227-1230
29. Jorgensen, M. M., Jensen, O. N., Holst, H. U., Hansen, J. J., Corydon, T. J., Bross, P., Bolund, L., and Gregersen, N. (2000) J. Biol. Chem. 275, 33861-33868
30. Hartl, F. U. (1996) Nature 381, 571-579
31. Martin, J. (1997) J. Bioenerg. Biomembr. 29, 35-43
32. Ryan, M. T., Naylor, D. J., Hoj, P. B., Clark, M. S., and Hoogenraad, N. J. (1997) Int. Rev. Cytol. 174, 127-193
33. Fink, A. L. (1999) Physiol. Rev. 79, 425-449
34. Ostermann, J., Horwich, A. L., Neupert, W., and Hartl, F. U. (1989) Nature 341, 125-130
35. Macheroux, P., Sanner, C., Buttner, H., Kieweg, V., Ruterjans, H., and Ghisla, S. (1997) Biol. Chem. 378, 1381-1385
36. Ritco-Vonsovici, M., and Willison, K. R. (2000) J. Mol. Biol. 304, 81-98
37. McCormack, E. A., Rohman, M. J., and Willison, K. R. (2001) J. Struct. Biol. 135, 185-197
38. Shinder, G. A., Lacourse, M. C., Minotti, S., and Durham, H. D. (2001) J. Biol. Chem. 276, 12791-12796
39. Milewski, M. I., Mickle, J. E., Forrest, J. K., Stanton, B. A., and Cutting, G. R. (2002) J. Biol. Chem. 277, 34462-34470
40. Chiti, F., Taddei, N., Baroni, F., Capanni, C., Stefani, M., Ramponi, G., and Dobson, C. M. (2002) Nat. Struct. Biol. 9, 137-143
41. Dobson, C. M. (2001) Philos. Trans. R. Soc. Lond. -Biol. Sci. 356, 133-145
42. Martin, J. B. (1999) N. Engl. J. Med. 340, 1970-1980
43. Huang, T. H., Yang, D. S., Fraser, P. E., and Chakrabartty, A. (2000) J. Biol. Chem. 275, 36436-36440
44. Shastry, B. S. (2003) Neurochem. Int. 43, 1-7
45. Dobson, C. M. (2003) Nat. Rev. Drug Discov. 2, 154-160
46. Battaile, K. P., Molin-Case, J., Paschke, R., Wang, M., Bennett, D., Vockley, J., and Kim, J. J. (2002) J. Biol. Chem. 277, 12200-12207
47. Stuart, R. A., Gruhler, A., van, d. K., I, Guiard, B., Koll, H., and Neupert, W. (1994) Eur. J. Biochem. 220, 9-18