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Characterization of a Naturally Occurring Mutation (Arg-447 to Gly) in Human Dihydrolipoamide Dehydrogenase of Patients with Neurological Deterioration

  • Kim, Hakjung
  • Received : 2015.09.07
  • Accepted : 2015.11.19
  • Published : 2016.02.20

Abstract

Keywords

Dihydrolipoamide dehydrogenase;Pyridine nucleotide-disulfide oxidoreductase;Flavoenzyme;Dihydrolipoamide deficiency;α-Keto acid dehydrogenase complexes

References

  1. Reed, L. J. Acc. Chem. Res. 1974, 7, 40. https://doi.org/10.1021/ar50074a002
  2. Walker, J. L.; Oliver, D. J. J. Biol. Chem. 1986, 261, 2214.
  3. Williams, C. H., Jr. Enzymes, 3rd ed; Boyer, P., Ed.; Academic Press: 1976; p 89.
  4. Cameron, J. M.; Levandovskiy, V.; Mackay, N.; Raiman, J.; Renaud, D. L., Clarke J. T.; Feigenbaum, A.; Elpeleg, O.; Robinson, B. H. Am. J. Med. Genet. 2006, 140, 1542.
  5. dièvre, M. H.; Chretien, D.; Munnich, A.; Robinson, B. H.; Dumoulin, R.; Masmoudi, S.; Kadhom, N.; Rötig, A., Rustin, P., Bonnefont, J. P. Hum Mutat. 2005, 25, 323.
  6. Laemmil, U. K. Nature 1970, 227, 680. https://doi.org/10.1038/227680a0
  7. Kim, H.; Liu, T.-C.; Patel, M. S. J. Biol. Chem. 1991, 266, 9367.
  8. Yuan, L.; Cho, Y.-J.; Kim, H. Bull. Korean Chem. Soc. 2009, 30, 777. https://doi.org/10.5012/bkcs.2009.30.4.777
  9. Lee, M.-Y.; Lee, S.-C.; Cho, J.-H.; Ryu, S.-E.; Koo, B.-S.; Yoon, M.-Y. Bull. Korean Chem. Soc. 2013, 34, 669. https://doi.org/10.5012/bkcs.2013.34.2.669
  10. Jo, H.-J.; Pack, M.-J.; Seo, J.-Y.; Lim, J.-K.; Kong, K.-H. Bull. Korean Chem. Soc. 2013, 34, 2671. https://doi.org/10.5012/bkcs.2013.34.9.2671
  11. Yamada, K.; Hara, N.; Shibata, T.; Osago, H.; Tsuchiya. M. Anal. Biochem. 2006, 352, 282. https://doi.org/10.1016/j.ab.2006.02.017
  12. Yang, H.; Yang, T.; Baur, J. A.; Perez, E.; Matsui, T.; Carmona, J. J.; Lamming, D. W.; Souza-Pinto, N. C.; Bohr, V. A.; Rosenzweig, A.; de Cabo, R.; Sauve, A. A.; Sinclair, D. A. Cell 2007, 130, 1095. https://doi.org/10.1016/j.cell.2007.07.035
  13. Zamyatin, A. A. Prog. Biophys. Mol. Biol. 1972, 24, 107. https://doi.org/10.1016/0079-6107(72)90005-3
  14. Brautigam, C. A.; Chuang J. L.; Tomchick, D. R.; Machius, M.; Chuang, D. T. J. Mol. Biol. 2005, 350, 543. https://doi.org/10.1016/j.jmb.2005.05.014