References
Anderson, M. A. and Gusella, J. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.In vitro 20 (1984) 856–858
Bird, A. G., McLachlan, M. M. and Britton, S. Cyclosporin A promotes spontaneous outgrowthin vitro of Epstein-Barr virus-induced B-cell lines.Nature (London) 289 (1981) 300–301
Blass, J. P. Disorders of pyruvate metabolism.Neurology 29 (1979) 280–286
Blass, J. P., Avigan, J. and Uhlendorf, B. W. A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.J. Clin. Invest. 49 (1979) 423–432
Dahl, H.-H. M., Hunt, S. M., Hutchinson, W. M. and Brown, G. The human pyruvate dehydrogenase complex.J. Biol. Chem. 262 (1987) 7398–7403
Endo, H., Hasegawa, K., Nariswa, K., Tada, K., Kagawa, Y. and Ohta, S. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 α-subunit caused by a frame shift.Am. J. Hum. Genet. 44 (1989a) 358–364
Endo, H., Hasegawa, K., Narisawa, K., Tada, K., Kagawa, Y. and Ohta, S. Identification of the gene for the pyruvate dehydrogenase E1 α-subunit with a deletion of 4 nucleotides from a patient with its deficiency.Ann. N.Y. Acad. Sci. (1989b) in press
Ho, L., Hu, C.-W. C., Packman, S. and Patel, M. S. Deficiency of the pyruvate dehydrogenase complex-deficient human fibroblast.J. Clin. Invest. 78 (1986) 844–847
Huynh, T., Young, R. A. and Davis, R. W. Constructing and screening cDNA libraries in λt10 and λgt11. In Glover, D. M. (ed.)DNA Cloning I IRI, Oxford and Washington, DC, 1985, pp. 49–78
Koike, K., Ohta, S., Urata, Y., Kagawa, Y. and Koike, M. Cloning and sequencing of cDNAs encoding α and β subunits of human pyruvate dehydrogenase.Proc. Natl. Acad. Sci. USA 85 (1988) 41–45
Mackall, J., Meredith, M. and Lane, M. D. A mild procedure for the rapid release of cytoplasmic enzymes from cultured animal cells.Anal. Biochem. 95 (1979) 270–274
McKay, N., Petrova-Benedict, R., Thoene, J., Bergen, B., Wilson, W. and Robinson, B. Lactic acidemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme.Eur. J. Pediatr. 144 (1986) 445–450
Miyabayashi, S., Ito, T., Narisawa, K., Iinuma, K. and Tada, K. Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalopathy.Eur. J. Pediatr. 143 (1985) 278–283
Sanger, F., Nicklen, S. and Coulson, A. R. DNA sequencing with chain-terminating inhibitors.Proc. Natl. Acad. Sci. USA 74 (1977) 5463–5467
Sheu, K. F., Hu, C. C. and Utter, M. F. Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.J. Clin. Invest. 67 (1981) 1463–1471
Towbin, H., Staehein, T. and Gordon, J. Electric transfer of proteins from polyacrylamide gels to nitrocellulose sheets.Proc. Natl. Acad. Sci USA. 76 (1979) 4350–4354
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Endo, H., Miyabayashi, S., Hasegawa, K. et al. Cloning of a defective gene encoding the pyruvate dehydrogenase E1α subunit from a patient with its deficiency. J Inherit Metab Dis 12, 363–367 (1989). https://doi.org/10.1007/BF01799243
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DOI: https://doi.org/10.1007/BF01799243