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Pyruvate dehydrogenase deficiency due to a mutation of the E1 α subunit

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Journal of Inherited Metabolic Disease

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References

  • Brown, R. M., Dahl, H.-H. M. and Brown, G. K. X-chromosome location of the functional gene for the E1α subunit of the pyruvate dehydrogenase complex.Genomics 4 (1989) 174–181

    PubMed  Google Scholar 

  • Chomczynski, P. and Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.Anal. Biochem. 162 (1987) 156–159

    PubMed  Google Scholar 

  • Dahl, H.-H. M., Hunt, S. M., Hutchison, W. M. and Brown, G. K. The human pyruvate dehydrogenase complex.J. Biol. Chem. 262 (1987) 7398–7403

    PubMed  Google Scholar 

  • De Meirleir, L. J., MacKay, N., Lam, H. W. A. M. and Robinson, B. H. Isolation of a full-length complementary DNA coding for human E1α subunitof the pyruvate dehydrogenase complex.J. Biol. Chem. 263 (1988) 1991–1995

    PubMed  Google Scholar 

  • Endo, H., Hasegawa, K., Narisawa, K., Tada, K. and Kagawa, Y. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenaseα subunit caused by a frame shift.Am. J. Hum. Genet. 44 (1989) 358–364

    PubMed  Google Scholar 

  • Ho, L., Wexler, I. D., Liu, T.-C., Thekkumkara, T. J. and Patel, M. S. Characterization of cDNAs encoding human pyruvate dehydrogenaseα subunit.Proc. Natl. Acad. Sci. USA 86 (1989) 5330–5334

    PubMed  Google Scholar 

  • Koike, K., Ohta, S., Urata, Y., Kagawa, Y. and Koike, M. Cloning and sequencing of cDNAs encodingα andβ subunits of human pyruvate dehydrogenase.Proc. Natl. Acad. Sci. USA 85 (1988) 41–45

    PubMed  Google Scholar 

  • Maragos, C., Hutchison, W. M., Hayasaka, K., Brown, G. K. and Dahl, H.-H. M. Structural organization of the gene for the E1α subunit of the human pyruvate dehydrogenase complex.J. Biol. Chem. 264 (1989) 12294–12298

    PubMed  Google Scholar 

  • Sermon, K., De Meirleir, L. J., Elpers, I., Lissens, W. and Liebaers, I. Characterization of a cDNA for porcine PDH E1α and comparison with the human cDNA.Nucl. Acid Res. 18 (1990) 4925

    Google Scholar 

  • Yeaman, S. J., Hutcheson, E. T., Roche, T. E., Pettit, F. H., Brown, J. R., Reed, L. J., Watson, D. C. and Dixon, G. H. Sites of phosphorylation on pyruvate dehydrogenase from bovine kidney and heart.Biochemistry 17 (1978) 2364–2370

    PubMed  Google Scholar 

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de Meirleir, L.J., Lissens, W., Vamos, E. et al. Pyruvate dehydrogenase deficiency due to a mutation of the E1 α subunit. J Inherit Metab Dis 14, 301–304 (1991). https://doi.org/10.1007/BF01811687

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