Functional characterization of PCCA mutations causing propionic acidemia

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1588, Issue 2, 2002, Pages 119-125

  Clavero, Sonia ^a   Martínez, M Angeles ^a   Pérez, Belén ^a   Pérez Cerdá, Celia ^a   Ugarte, Magdalena ^a   Desviat, Lourdes R ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Expression analysis; Genotype phenotype correlation; Mutation; PCCA; Propionic acidemia

Indexed keywords

MUTANT PROTEIN; PROPIONYL COENZYME A CARBOXYLASE;

ARTICLE; CELL FREE SYSTEM; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN DOMAIN; PROTEIN STABILITY; STRUCTURE ACTIVITY RELATION; WILD TYPE;

ANIMALS; CARBON-CARBON LIGASES; CELL-FREE SYSTEM; CELLS, CULTURED; CLONING, MOLECULAR; DNA, COMPLEMENTARY; FIBROBLASTS; GENOTYPE; HUMANS; MITOCHONDRIA; MITOCHONDRIA, LIVER; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROPIONIC ACIDS; PROTEIN PRECURSORS; RATS; TRANSFECTION;

EID: 0037145692     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(02)00155-2     Document Type: Article

References (33)

1. Fenton W.A., Gravel R.A., Rosenberg L.E. Scriver C.R., Beaudet A.L., Sly W., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. 2001;2165-2190 McGraw-Hill, New York.
2. Rosenberg L.E., Fenton W.A., Horwich A.L., Kalousek F., Kraus J.P. Ann. N.Y. Acad. Sci. 488:1986;99-108.
3. Ohura T., Narisawa K., Tada K. J. Inherit. Metab. Dis. 16:1993;863-867.
4. Stankovics J., Ledley F.D. Am. J. Hum. Genet. 52:1993;144-151.
5. Lamhonwah A., Leclerc D., Loyer M., Clarizio R., Gravel R.A. Genomics. 19:1994;500-505.
6. Campeau E., Desviat L.R., Leclerc D., Wu X., Perez B., Ugarte M., Gravel R.A. Mol. Genet. Metab. 74:2001;238-247.
7. Rodríguez-Pombo P., Hoenicka J., Muro S., Pérez B., Pérez-Cerdá C., Richard E., Desviat L.R., Ugarte M. Am. J. Hum. Genet. 63:1998;360-369.
8. Ugarte M., Pérez-Cerdá C., Rodríguez-Pombo P., Desviat L.R., Pérez B., Richard E., Muro S., Campeau E., Ohura T., Gravel R.A. Hum. Mutat. 14:1999;275-282.
9. Pérez-Cerdá C., Merinero B., Rodríguez-Pombo P., Pérez B., Desviat L.R., Muro S., Richard E., García M.J., Gangoiti J., Ruiz-Sala P., Sanz P., Briones P., Ribes A., Martínez-Pardo M., Campistol J., Pérez M., Lama R., Murga M.L., Lema-Garrett T., Verdú A., Ugarte M. Eur. J. Hum. Genet. 8:2000;187-194.
10. Miyazaki T., Ohura T., Kobayashi M., Shigematsu Y., Yamaguchi S., Suzuki Y., Hata I., Aoki Y., Yang X., Minjares C., Haruta I., Uto H., Ito Y., Muller U. J. Biol. Chem. 276:2001;35995-35999.
11. Samols D., Thornton C.G., Murtif V.L., Kumar G.K., Haase F.C., Wood H.G. J. Biol. Chem. 263:1988;6461-6464.
12. Leon-del-Rio A., Gravel R.A. J. Biol. Chem. 269:1994;22964-22968.
13. Thoden J.B., Blanchard C.Z., Holden H.M., Waldrop G.L. J. Biol. Chem. 275:2000;16183-16190.
14. Athappilly F.K., Hendrikson W.A. Structure. 3:1995;1407-1419.
15. Kelson T.L., Ohura T., Kraus J.P. Hum. Mol. Genet. 5:1996;331-337.
16. Ravn K., Chloupkova M., Christensen E., Brandt N.J., Simonsen H., Kraus J.P., Nielsen I.M., Skovby F., Schwartz M. Am. J. Hum. Genet. 67:2000;203-206.
17. Chloupkova M., Ravn K., Schwartz M., Kraus J.P. Mol. Genet. Metab. 71:2000;623-632.
18. Muro S., Pérez B., Rodríguez-Pombo P., Desviat L.R., Pérez-Cerdá C., Ugarte M. J. Inherit. Metab. Dis. 23:2000;300-304.
19. Muro S., Perez B., Desviat L.R., Rodríguez-Pombo P., Perez-Cerda C., Clavero S., Ugarte M. Mol. Genet. Metab. 74:2001;476-483.
20. Richard E., Desviat L.R., Pérez B., Pérez-Cerdá C., Ugarte M. Biochim. Biophys. Acta. 1453:1999;351-358.
21. Brown R.M., Otero L.J., Brown G.K. Hum. Mol. Genet. 6:1997;1361-1367.
22. Richard E., Desviat L.R., Pérez B., Pérez-Cerdá C., Ugarte M. Hum. Genet. 101:1997;93-96.
23. Suormala T., Wick H., Bonjour J.P., Baumgartner E.R. Clin. Chim. Acta. 145:1985;151-162.
24. Old S.E., DeVivo D.C. Ann. Neurol. 26:1989;746-754.
25. Loewenstein J., Scholte H.R., Wit-Peeters E.M. Biochim. Biophys. Acta. 223:1970;432-436.
26. Reddy D.V., Shenoy B.C., Carey P.R., Sonnichsen F.D. Biochemistry. 39:2000;2509-2516.
27. Campeau E., Dupuis L., Leon-del-Rio A., Gravel R.A. Mol. Genet. Metab. 67:1999;11-22.
28. Pérez-Cerdá C., Desviat L.R., Perez B., Ugarte M., Rodriguez-Pombo P. Mol. Genet. Metab. 75:2002;276-279.
29. Galperin M.Y., Koonin E.V. Protein Sci. 6:1997;2639-2643.
30. Artymiuk P.J., Poirrette A.R., Rice D.W., Willett P. Nat. Struct. Biol. 3:1996;128-132.
31. Bross P., Corydon T.J., Andresen B.S., Jorgensen M.M., Bolund L., Gregersen N. Hum. Mutat. 14:1999;186-198.
32. Gregersen N., Bross P., Jorgensen M.M., Corydon T.J., Andresen B.S. J. Inherit. Metab. Dis. 23:2000;441-447.
33. Chapman-Smith A., Forbes B.E., Wallace J.C., Cronan J.E. Jr. J. Biol. Chem. 272:1997;26017-26022.