Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency

Journal of Biological Chemistry

Volumn 283, Issue 49, 2008, Pages 34150-34158

  Pérez Monjaras, Anylu ^a   Cervantes Roldán, Rafael ^a   Meneses Morales, Iván ^a   Gravel, Roy A ^b   Reyes Carmona, Sandra ^a   Solórzano Vargas, Sergio ^a   González Noriega, Alfonso ^b   León Del Río, Alfonso ^a  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; BIOCHEMISTRY; SYNTHESIS (CHEMICAL); TRANSCRIPTION;

ALLOCATION MECHANISMS; BIOTINYLATION; BRAIN METABOLISMS; CLINICAL MANIFESTATIONS; GENES ENCODING; GENETIC DEFICIENCIES; KEY REACTIONS; LYSINE RESIDUES; REGULATORY MOLECULES; SYNTHESIS OF; SYNTHETASE;

COENZYMES;

5' BIOTINYL ADENOSINE MONOPHOSPHATE; ADENOSINE PHOSPHATE; ADENOSINE TRIPHOSPHATE; BIOTIN; BIOTINIDASE; HOLOCARBOXYLASE SYNTHETASE; LYSINE; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; BIOTINIDASE DEFICIENCY; BIOTINYLATION; BRAIN METABOLISM; CONTROLLED STUDY; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME ACTIVATION; ENZYME ACTIVITY; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSCRIPTION REGULATION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BIOTIN; BIOTINIDASE; BIOTINIDASE DEFICIENCY; BRAIN; CARBON-NITROGEN LIGASES; CELL CULTURE TECHNIQUES; CYCLIC GMP; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; TRANSCRIPTION, GENETIC;

EID: 57749102830     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M806985200     Document Type: Article

References (42)

1. Pacheco-Alvarez, D., Solórzano-Vargas, R. S., and Leon-Del-Rio, A. (2002) Arch. Med. Res. 33, 439-447
2. Wolf, B. (2001) in The Metabolic and Molecular Bases of Inherited Disease (Scriver, C., Beaudet, A. L., William, S., and Valle, D., eds) pp. 3935-3962, McGraw-Hill Medical Publishing Division, New York
3. Pacheco-Alvarez D., Solórzano-Vargas, R. S., Gravel, R. A., Cervantes-Roldán, R., Velázquez, A., and León-Del- Río, A. (2004) J. Biol. Chem. 279, 52312-52318
4. Solórzano-Vargas, R. S., Pacheco-Alvarez, D., and Leon-Del-Rio, A. (2002) Proc. Natl. Acad. Sci. U. S. A 99, 5325-5330
5. Pacheco-Alvarez, D., Solórzano-Vargas, R. S., González- Noriega, A., Michalak, C., Zempleni, J., and León-Del-Río, A. (2005) Mol. Genet. Metab. 85, 301-307
6. Chauhan, J., and Dakshinamurti, K. (1991) J. Biol. Chem. 266, 10035-10038
7. Collins, J., Paietta, E., Green, R., Morell, A., and Stockert, R. (1988) J. Biol. Chem. 263, 11280-11283
8. Deodhar, A. D., and Mistry, S. P. (1970) Life Sci. II 9, 581-588
9. Dakshinamurti, K., Tarrago-Litvak, L., and Hong, H. C. (1970) Can. J. Biochem. 48, 493-500
10. Borboni, P., Magnaterra, R., Rabini, R. A., Staffolani, R., Porzio, O., Sesti, G., Fusco, A., Mazzanti, L., Lauro, R., and Marlier, L. N. (1996) Acta Diabetol. 33, 154-158
11. De la Vega, L. A., and Stockert, R. J. (2000 Am. J. Physiol. 279, C2037-C2042
12. Maeda, Y., Kawata, S., Inui, Y., Fukuda, K., Igura, T., and Matsuzawa, Y. (1996) J. Nutr. 126, 61-66
13. Rodriguez-Melendez, R., Cano, S., Mendez, S. T., and Velazquez, A. (2001) J. Nutr. 131, 1909-1913
14. Pispa, J. (1965) Ann. Med. Exp. Biol. Fenn. 43, 1-39
15. Chapman-Smith, A., and Cronan, J. E., Jr. (1999) Trends Biochem. Sci. 24, 359-363
16. Leon-Del-Rio, A., and Gravel, R. A. (1994) J. Biol. Chem. 269, 22964-22968
17. Cole, H., Reynolds, T. R., Lockyer, J. M., Buck, G. A., Denson, T., Spence, J. E., Hymes, J., and Wolf, B. (1994) J. Biol. Chem. 269, 6566-6570
18. Chiang, G., and Mistry, S. (1974) Proc. Soc. Exp. Biol. Med. 146, 21-24
19. Hassel, B. (2000) Mol. Neurobiol. 22, 21-40
20. Wolf, B., Grier, R., Secor McVoy, J. R., and Heard, G. (1985) J. Inherit. Metab. Dis. 8, 53-58
21. Dupuis, L., Campeau, E., Leclerc, D., and Gravel, R. A. (1999) Mol. Genet. Metab. 66, 80-90
22. Sander, J. E., Packman, S., and Townsend, J. J. (1982) Neurology 32, 878-880
23. Dupuis, L., Leon-Del-Rio, A., Leclerc, D., Campeau, E., Sweetman, L., Saudubray, J. M., Herman, G., Gibson, K. M., and Gravel, R. A. (1996) Hum. Mol. Genet. 5, 1011-1016
24. Narang, M. A., Dumas, R., Ayer, L. M., and Gravel, R. A. (2004) Hum. Mol. Genet. 13, 15-23
25. Leon-Del-Rio, A., Leclerc, D., Akerman, B., Wakamatsu, N., and Gravel, R. A. (1995) Proc. Natl. Acad. Sci. U. S. A 92, 4626-4630
26. Wolf, B., Jensen, K. P., Barshop, B., Blitzer, M., Carlson, M., Goudie, D. R., Gokcay, G. H., Demirkol, M., Baykal, T., Demir, F., Quary, S., Shih, L. Y., Pedro, H. F., Chen, T. H., and Slonim, A. E. (2005) Hum. Mutat. 25, 413
27. Knight, H., Reynolds, T. R., Meyers, G. A., Pomponio, R. J., Buck, G. A., and Wolf, B. (1998) Mamm. Genome 9, 327-330
28. Norrgard, K. J., Pomponio, R. J., Swango, K. L., Hymes, J., Reynolds, T., Buck, G. A., and Wolf, B. (1998) Hum. Mutat. 11, 410
29. Weiner, D., and Wolf, B. (1991) Biochem. Med. Metab. Biol. 46, 344-363
30. Rodriguez-Melendez, R., Pérez-Andrade, M. E., Díaz, A., Deolarte, A., Camacho-Arroyo, I., Cicerón, I., Ibarra, I., and Velázquez, A. (1999) Mol. Genet. Metab. 66, 16-23
31. Burri, B., Sweetman, L., and Nyhan, W. (1985) Am. J. Hum. Genet. 37, 326-337
32. Schulz, P. E., Weiner, S. P., Belmont, J. W., and Fishman, M. A. (1988) Neurology 38, 1326-1328
33. Baumgartner, E. R., Suormala, T. M., Wick, H., Probst, A., Blauenstein, U., Bachmann, C., and Vest, M. (1989) Pediatr. Res. 26, 260-266
34. Heller, A. J., Stanley, C., Shaia, W. T., Sismanis, A., Spencer, R. F., and Wolf, B. (2002) Hear. Res. 173, 62-68
35. Bhagavan, H. N., and Coursin, D. B. (1970) J. Neurochem. 17, 289-290
36. Ozand, P. T., Gascon, G. G., Al Essa, M., Joshi, S., Al Jishi, E., Bakheet, S., Al Watban, J., Al-Kawi, M. Z., and Dabbagh, O. (1998) Brain 121, 1267-1279
37. Subramanian, V. S., Marchant, J. S., and Said, H. M. (2006) Am. J. Physiol. 291, C851-C859
38. Adhisivam, B., Mahto, D., and Mahadevan, S. (2007) Indian Pediatr. 44, 228-230
39. Straussberg, R., Shorer, Z., Weitz, R., Basel, L., Kornreich, L., Corie, C. I., Harel, L., Djaldetti, R., and Amir, J. (2002) Neurology 59, 983-989
40. Suchy, S. F., McVoy, J. S., and Wolf, B. (1985) Neurology 35, 1510-1511
41. Héron, B., Gautier, A., Dulac, O., and Ponsot, G. (1993) Arch. Fr. Pediatr. 50, 875-878
42. Lo, W., Kadlecek, T., and Packman, S. (1991) J. Nutr. Sci. Vitaminol. (Tokyo) 37, 567-572