Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: A molecular rationale for the effects of riboflavin supplmentation

Journal of Biological Chemistry

Volumn 284, Issue 7, 2009, Pages 4222-4229

  Henriques, Bárbara J ^a   Rodrigues, Joäo V ^a   Olsen, Rikke K ^b   Bross, Peter ^b   Gomes, Cláudio M ^a  

^a INSTITUTO DE TECNOLOGIA QUÍMICA E BIOLÓGICA   (Portugal)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL-COA; AMINO ACID METABOLISM; BIOLOGICAL ACTIVITIES; BIOPHYSICAL METHODS; CIRCULAR DICHROISM; CONFORMATIONAL STABILITIES; DISEASE SYMPTOMS; ELECTRON TRANSFER; FLAVINYLATION; GENES ENCODING; GENETIC DISORDERS; HEAT INACTIVATION; IN-VITRO; MOLECULAR PATHOGENESIS; OXIDOREDUCTASE; POINT MUTATIONS; PROTEIN DESTABILIZATION; PROTEOLYTIC DIGESTION; STABILITY PROPERTIES; STRESS CONDITION; STRUCTURAL CHANGE; TRYPTOPHAN FLUORESCENCE; UBIQUINONE; VIRAL INFECTIONS; WILD TYPES;

AMINES; AMINO ACIDS; DEHYDROGENATION; DICHROISM; ELECTRON TRANSITIONS; ENZYMES; FATTY ACIDS; FOOD ADDITIVES; ORGANIC ACIDS; STABILITY;

PLANTS (BOTANY);

ACYL COENZYME A DEHYDROGENASE; ELECTRON TRANSFERRING FLAVOPROTEIN; FLAVINE ADENINE NUCLEOTIDE; QUERCETIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; TRYPTOPHAN; AMINO ACID; ETFB PROTEIN, HUMAN; FATTY ACID;

AMINO ACID METABOLISM; ARTICLE; BIOCHEMISTRY; CIRCULAR DICHROISM; CONTROLLED STUDY; DIET SUPPLEMENTATION; DISEASE SEVERITY; ENZYME STABILITY; FATTY ACID METABOLISM; FEVER; FLUORESCENCE ANALYSIS; GENE INACTIVATION; GENE MUTATION; GENETIC VARIABILITY; HEAT; HOMOZYGOSITY; IN VITRO STUDY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NONHUMAN; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN STABILITY; TEMPERATURE; WILD TYPE; AMINO ACID SUBSTITUTION; CHEMISTRY; GENETICS; HOMOZYGOTE; HUMAN; METABOLISM; PROTEIN TERTIARY STRUCTURE; STRUCTURE ACTIVITY RELATION;

AMINO ACID SUBSTITUTION; AMINO ACIDS; CIRCULAR DICHROISM; ELECTRON TRANSPORT COMPLEX I; ELECTRON-TRANSFERRING FLAVOPROTEINS; FATTY ACIDS; FLAVIN-ADENINE DINUCLEOTIDE; HOMOZYGOTE; HOT TEMPERATURE; HUMANS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; POINT MUTATION; PROTEIN FOLDING; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; RIBOFLAVIN; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 63249105550     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M805719200     Document Type: Article

References (44)

1. Frerman, F. E., and Goodman, S. I. (2001) in The Metabolic and Molecular Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds) pp. 2357-2365, McGraw Hill, New York
2. Roberts, D. L., Frerman, F. E., and Kim, J. J. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 14355-14360
3. Olsen, R. K., Olpin, S. E., Andresen, B. S., Miedzybrodzka, Z. H., Pourfarzam, M., Merinero, B., Frerman, F. E., Beresford, M. W., Dean, J. C., Cornelius, N., Andersen, O., Oldfors, A., Holme, E., Gregersen, N., Turnbull, D. M., and Morris, A. A. (2007) Brain 130, 2045-2054
4. Ruzicka, F. J., and Beinert, H. (1977) J. Biol. Chem. 252, 8440-8445
5. McKean, M. C., Beckmann, J. D., and Frerman, F. E. (1983) J. Biol. Chem. 258, 1866-1870
6. Olsen, R. K., Andresen, B. S., Christensen, E., Bross, P., Skovby, F., and Gregersen, N. (2003) Hum. Mutat. 22, 12-23
7. Goodman, S. I., Binard, R. J., Woontner, M. R., and Frerman, F. E. (2002) Mol. Genet. Metab. 77, 86-90
8. Schiff, M., Froissart, R., Olsen, R. K., Acquaviva, C., and Vianey-Saban, C. (2006) Mol. Genet. Metab. 88, 153-158
9. Yotsumoto, Y., Hasegawa, Y., Fukuda, S., Kobayashi, H., Endo, M., Fukao, T., and Yamaguchi, S. (2008) Mol. Genet. Metab. 94, 61-67
10. Gregersen, N., Bross, P., and Andresen, B. S. (2004) Eur. J. Biochem. 271, 470-482
11. Ensenauer, R., He, M., Willard, J. M., Goetzman, E. S., Corydon, T. J., Vandahl, B. B., Mohsen, A. W., Isaya, G., and Vockley, J. (2005) J. Biol. Chem. 280, 32309-32316
12. Bross, P., Jespersen, C., Jensen, T. G., Andresen, B. S., Kristensen, M. J., Winter, V., Nandy, A., Krautle, F., Ghisla, S., Bolundi, L., Kim, J. J. P., and Gregersen, N. (1995) J. Biol. Chem. 270, 10284-10290
13. Hansen, J., Gregersen, N., and Bross, P. (2005) Biochem. Biophys. Res. Commun. 333, 1160-1170
14. Nagao, M., and Tanaka, K. (1992) J. Biol. Chem. 267, 17925-17932
15. Saijo, T., and Tanaka, K. (1995) J. Biol. Chem. 270, 1899-1907
16. Sato, K., Nishina, Y., and Shiga, K. (1996) J Biochem. (Tokyo) 120, 276-285
17. Sato, K., Nishina, Y., and Shiga, K. (1997) J Biochem. (Tokyo) 121, 477-486
18. Gregersen, N., Wintzensen, H., Christensen, S. K., Christensen, M. F., Brandt, N. J., and Rasmussen, K. (1982) Pediatr. Res. 16, 861-868
19. Amendt, B. A., and Rhead, W. J. (1986) J. Clin. Investig. 78, 205-213
20. Rhead, W., Roettger, V., Marshall, T., and Amendt, B. (1993) Pediatr. Res. 33, 129-135
21. Beresford, M. W., Pourfarzam, M., Turnbull, D. M., and Davidson, J. E. (2006) Neuromuscul. Disord. 16, 269-273
22. Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., and Horvath, R. (2007) Brain 130, 2037-2044
23. Kmoch, S., Zeman, J., Hrebicek, M., Ryba, L., Kristensen, M. J., and Gregersen, N. (1995) J. Inherit. Metab. Dis. 18, 227-229
24. Duran, M., Cleutjens, C. B., Ketting, D., Dorland, L., de Klerk, J. B., van Sprang, F. J., and Berger, R. (1992) Pediatr. Res. 31, 39-42
25. Brandt, N. J., Gregersen, N., Christensen, E., Gron, I. H., and Rasmussen, K. (1979) J. Pediatr. 94, 669-673
26. Ames, B. N., Elson-Schwab, I., and Silver, E. A. (2002) Am. J. Clin. Nutr. 75, 616-658
27. Powers, H. J. (2003) Am. J. Clin. Nutr. 77, 1352-1360
28. Windmueller, H. G., Anderson, A. A., and Mickelsen, O. (1964) Am. J. Clin. Nutr. 15, 73-76
29. Manore, M. M. (2000) Am. J. Clin. Nutr. 72, Suppl. 2, 598S-606S
30. Lakshmi, A. V. (1998) Indian J. Med. Res. 108, 182-190
31. Laskowski, R. A., Chistyakov, V. V., and Thornton, J. M. (2005) Nucleic Acids Res. 33, D266-D268
32. Salazar, D., Zhang, L., deGala, G. D., and Frerman, F. E. (1997) J. Biol. Chem. 272, 26425-26433
33. Sato, K., Nishina, Y., and Shiga, K. (2003) J Biochem. 134, 719-729
34. Shirley, B. A. (1995) Methods Mol. Biol. 40, 177-190
35. Royer, C. A. (1995) Methods Mol. Biol. 40, 65-89
36. Lundemose, J. B., Kolvraa, S., Gregersen, N., Christensen, E., and Gregersen, M. (1997) Mol. Pathol. 50, 212-217
37. Herrick, K. R., Salazar, D., Goodman, S. I., Finocchiaro, G., Bedzyk, L. A., and Frerman, F. E. (1994) J. Biol. Chem. 269, 32239-32245
38. Lakowicz, J. R. (1999) Principles of Fluorescence Spectroscopy, 2nd Ed., Kluwer Academic/Plenum Publishers, New York
39. Fontana, A., de Laureto, P. P., Spolaore, B., Frare, E., Picotti, P., and Zambonin, M. (2004) Acta Biochim. Pol. 51, 299-321
40. Gregersen, N. (1985) J. Inherit. Metab. Dis. 8, Suppl. 1, 65-69
41. Antozzi, C., Garavaglia, B., Mora, M., Rimoldi, M., Morandi, L., Ursino, E., and DiDonato, S. (1994) Neurology 44, 2153-2158
42. Vergani, L., Barile, M., Angelini, C., Burlina, A. B., Nijtmans, L., Freda, M. P., Brizio, C., Zerbetto, E., and Dabbeni-Sala, F. (1999) Brain 122, 2401-2411
43. Gianazza, E., Vergani, L., Wait, R., Brizio, C., Brambilla, D., Begum, S., Giancaspero, T. A., Conserva, F., Eberini, I., Bufano, D., Angelini, C., Pegoraro, E., Tramontano, A., and Barile, M. (2006) Electrophoresis 27, 1182-1198
44. Pallotta, M. L., Brizio, C., Fratianni, A., De Virgilio, C., Barile, M., and Passarella, S. (1998) FEBS Lett. 428, 245-249