A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Biochemical Journal

Volumn 323, Issue 2, 1997, Pages 329-335

  Pié, Juan ^a   Casals, Núria ^a   Casale, Cesar H ^a   Buesa, Carlos ^a   Mascaró, Cristina ^a   Barceló, Anna ^a   Rolland, Marie Odile ^b   Zabot, Theresa ^b   Haro, Diego ^a   Eyskens, François ^c   Divry, Priscille ^b   Hegardt, Fausto G ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HÔPITAL DEBROUSSE   (France)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; LYASE;

ARTICLE; CASE REPORT; DELETION MUTANT; ENZYME DEFICIENCY; EXON; FEMALE; HUMAN; HUMAN CELL; INFANT; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ASSAY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 0030896093     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/bj3230329     Document Type: Article

References (38)

1. Kramer, P. R. and Miziorko, H. M. (1980) J. Biol. Chem. 255, 11023-11028
2. Robinson, A. L. and Williamson, D. H. (1980) Physiol. Rev. 60, 143-187
3. Wysocki, S. J. and Hähnel, R. (1986) J. Inherit. Metab. Dis. 9, 225-233
4. Gibson, K. M., Breuer, J., Kaiser, K., Nyhan, W. L., McCoy, E. E., Ferreira, P., Greene, C. L, Blitzer, M. G., Shapira, E., Reverte, F., Conde, C., Bagnell, P. and Cole, D. E. C. (1988) J. Inherit. Metab. Dis. 11, 75-87
5. Gibson, K. M., Breuer, J. and Nyhan, W. L. (1988) Eur. J. Pedriatr. 148, 180-186
6. Gibson, K. M., Cassidy, S. B., Seaver, L. H., Wanders, R. J., Kennaway, N. G., Mitchell, G. A. and Spark, R. P. (1994) J. Inherit. Metab. Dis. 17, 291-294
7. Ozand, P. T., Al Aqeel, A., Gascon, G., Brismar, J., Thomas, E. and Gleispach, H. (1991) J. Inherit. Metab. Dis. 14, 174-188
8. Sweetman, L. and Williams, J. C. (1995) in The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., eds.), vol. 1, 7th edn., pp. 1400-1402, McGraw-Hill, New York
9. Faull, K. F., Bolton, P. D., Halpern, B., Hammond, J. and Danks, D. M. (1976) Clin. Chim. Acta 73, 553-559
10. Sovik, O., Sweetman, L., Gibson, K. M. and Nyhan, W. L. (1984) Am. J. Hum. Genet. 36, 791-801
11. Mitchell, G. A., Robert, M. F., Hruz, P. W., Wang, S., Fontaine, G., Behnke, C. E., Mende-Mueller, L. M., Schappert, K., Lee, C., Gibson, K. M. and Miziorko, H. M. (1993) J. Biol. Chem. 268, 4376-4381
12. Wang, S., Nadeau, J. H., Duncan, A., Robert, M. F., Fontaine, G., Schappert, K., Johnson, K. R., Zietkiewicz, E., Hruz, P., Miziorko, H. and Mitchell, G. A. (1993) Mamm. Genome 4, 382-387
13. Anderson, D. H. and Rodwell, V. W. (1989) J. Bacteriol. 171, 6468-6472
14. Mitchell, G. A., Jakobs, C., Gibson, K. M., Robert, M. F., Burlina, A., Dionisi-Vici, C. and Dallaire, L. (1995) Prenat. Diagn. 15, 725-729
15. Buesa, C., Pié, J., Barceló, A., Casals, N., Mascaró, C., Casale, C. H., Haro, D., Duran, M., Smeitink, J. A. M. and Hegardt, F. G. (1996) J. Lipid Res. 37, 2420-2432
16. Divry, P., Rolland, M. O., Teyssier, J., Cotte, J., Formosinho Fernandes, M. C., Tavares de Almeida, I. and Da Silveira, C. (1981) J. Inherit. Metab. Dis. 4, 173-174
17. Sambrook, J., Fritsch, E. F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd edn., Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
18. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Genomics 5, 874-879
19. Sanger, F., Nicklen, S. and Coulson, A. R. (1977) Proc. Natl. Acad. Sci. U.S.A. 74, 5463-5467
20. Solomon, R. N., Underwood, R., Doyle, M. V., Wang, A. and Libby, P. (1992) Proc. Natl. Acad. Sci. U.S.A. 89, 2814-2818
21. Dallman, M. J., Montgomery, R. A., Larsen, C. P., Wanders, A. and Wells, A. F. (1991) Immunol. Rev. 119, 163-179
22. Roberts, J. R., Narasimhan, C. and Miziorko, H. M. (1995) J. Biol. Chem. 270, 17311-17316
23. Roberts, J. R., Narasimhan, C., Hruz, P. W., Mitchell, G. A. and Miziorko, H. M. (1994) J. Biol. Chem. 269, 17841-17846
24. Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, Jr., R. J., Pyeritz, R. E. and Cutting, G. R. (1993) Science 259, 680-683
25. Naylor, J. A., Green, P. M., Rizza, C. R. and Gianelli, F. (1993) Hum. Mol. Genet. 2, 11-17
26. Endo, F., Awata, H., Katoh, H. and Matsuda, I. (1995) Genomics 25, 164-169
27. Belgrader, P. and Maquat, L E. (1994) Mol. Cell. Biol. 14, 6326-6336
28. Dibb, N. J. (1993) FEBS Lett. 325, 135-139
29. Berget, S. M. (1995) J. Biol. Chem. 270, 2411-2414
30. Dirksen, W. P., Sun, Q. and Rottman, F. M. (1995) J. Biol. Chem. 270, 5346-5352
31. Ramchatesingh, J., Zahler, A. M., Neugebauer, K. M., Roth, M. B. and Cooper, T. A. (1995) Mol. Cell. Biol. 15, 4898-4907
32. Sun, Q., Mayeda, A., Hampson, R. K., Krainer, A R. and Rottman, F. M. (1993) Genes Dev. 7, 2598-2608
33. Humphrey, M. B., Bryan, J., Cooper, T. A. and Berget, S. M. (1995) Mol. Cell. Biol. 15, 3979-3988
34. Xu, R., Teng, J. and Cooper, T. A. (1993) Mol. Cell. Biol. 13, 3660-3674
35. Watakabe, A., Tanaka, K. and Shimura, Y. (1993) Genes Dev. 7, 407-418
36. Amendt, B. A., Si, Z. H. and Stoltzfus, C. M. (1995) Mol. Cell. Biol. 15, 4606-4615
37. Staffa, A. and Cochrane, A. (1995) Mol. Cell. Biol. 15, 4597-4605
38. Wang, S. P., Robert, M. F., Gibson, K. M., Wanders, R. J. and Mitchell, G. A. (1996) Genomics 33, 99-104