References
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 (1970) 423–432
Brown, R. M., Dahl, H.-H. M. and Brown, G. K. X-chromosome location of the functional gene for the E1 α subunit of the human pyruvate dehydrogenase complex.Genomics 4 (1989) 174–181
Dahl, H.-H. M., Brown, R. M., Hutchinson, W. M., Maragos, C. and Brown, G. K. A testis-specific form of the human pyruvate dehydrogenase E1 α subunit is coded for by an intronless gene on chromosome 4.Genomics 8 (1990a) 225–232
Dahl, H.-H. M., Maragos, C., Brown, R. M., Hansen, L. L. and Brown, G. K. Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 α gene.Am. J. Hum. Genet. 47 (1990b) 286–293
Endo, H., Hasegawa, K., Narisawa, K., Tada, K., Kagawa, Y. and Ohta, S. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1α-subunit caused by a frame shift.Am. J. Hum. Genet. 44 (1989a) 358–364
Endo, H., Miyabayashi, S., Hasegawa, K., Narisawa, K., Tada, K., Kagawa, Y. and Ohta, S. Cloning of a defective gene encoding the pyruvate dehydrogenase E1 α subunit from a patient with its deficiency.J. Inher. Metab. Dis. 12 (1989b) 363–367
Ho, L. and Patel, M. S. Cloning and cDNA sequence of theβ-subunit component of human pyruvate dehydrogenase complex.Gene 86 (1990) 297–302
Ho, L., Wexler, I. D., Liu, T.-C., Thekkumkara, T. S. and Patel, M. S. Characterization of cDNAs encoding human pyruvate dehydrogenaseα subunit.Proc. Natl Acad. Sci. USA 85 (1989) 5330–5334
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., Thorne, J., Bergen, B., Wilson, W. and Robinson, B. Lacticacidemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in theα-subunit of the enzyme.Eur. J. Pediatr. 144 (1986) 445–450
Maniatis, T., Fritsch, E. F. and Sambrook, J.Molecular Cloning: a Laboratory Manual, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 1982
Maragos, C., Hutchison, W. M., Hayasaka, K., Brown, G. K. and Dahl, H.-H. M. Structural organization of the gene for the Elα subunit of the human pyruvate dehydrogenase complex.J. Biol. Chem. 264 (1989) 12294–12298
Miyabayashi, S., Ito, T., Narisawa, K., Iinuma, K. and Tada, K. Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.Eur. J. Pediatr. 143 (1985) 278–283
Nicoloso, M., Qu, L. H. and Bachellerie, J.-P. Titration of variant DNA sequences differing by a single point-mutation by selective dot-blot hybridization with synthetic oligonucleotides.Biochem. Biophys. Res. Commun. 159 (1989) 1233–1241
Rahmatullah, M., Gopalakrishnan, S., Andrews, P. C., Chang, C. L., Radke, G. A. and Roche, T. E. Subunit associations in the mammalian pyruvate dehydrogenase complex.J. Biol. Chem. 264 (1989) 2221–2227
Reed, L. J. Multienzyme complexes.Acc. Chem. Res. 7 (1974) 40–46
Robinson, B. H., MacMillan, H., Petrova-Benedict, R. and Sherwood, W. G. Variable clinical presentation in patients with defective El component of pyruvate dehydrogenase complex.J. Pediatr. 111 (1987) 525–533
Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A. and Arnheim, N. Enzymatic amplification ofβ-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.Science 230 (1985) 1350–1354
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
Wexler, I. D., Kerr, D. S., Ho, L., Lusk, M. M., Pepin, R. A., Javed, A. A., Mole, J. E., Thekkumkara, T. J., Pons, G. and Patel, M. S. Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.Proc. Natl Acad. Sci. USA 85 (1988) 7336–7340
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Endo, H., Miyabayashi, S., Tada, K. et al. A four-nucleotide insertion at the E1 α gene in a patient with pyruvate dehydrogenase deficiency. J Inherit Metab Dis 14, 793–799 (1991). https://doi.org/10.1007/BF01799952
Issue Date:
DOI: https://doi.org/10.1007/BF01799952