Literature DB >> 2515391

Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.

H Endo1, S Miyabayashi, K Hasegawa, K Narisawa, K Tada, Y Kagawa, S Ohta.   

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Year:  1989        PMID： 2515391     DOI： 10.1007/bf01799243

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  14 in total

Review 1.  Disorders of pyruvate metabolism.

Authors:  J P Blass
Journal:  Neurology       Date:  1979-03       Impact factor: 9.910

2.  Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

Authors:  H Endo; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

3.  Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.

Authors:  L Ho; C W Hu; S Packman; M S Patel
Journal:  J Clin Invest       Date:  1986-09       Impact factor: 14.808

4.  Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

Authors:  S Miyabayashi; T Ito; K Narisawa; K Iinuma; K Tada
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

5.  Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.

Authors:  H Towbin; T Staehelin; J Gordon
Journal:  Proc Natl Acad Sci U S A       Date:  1979-09       Impact factor: 11.205

6.  Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.

Authors:  M A Anderson; J F Gusella
Journal:  In Vitro       Date:  1984-11

7.  The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.

Authors:  H H Dahl; S M Hunt; W M Hutchison; G K Brown
Journal:  J Biol Chem       Date:  1987-05-25       Impact factor: 5.157

8.  Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein-Barr virus-induced B-cell lines.

Authors:  A G Bird; S M McLachlan; S Britton
Journal:  Nature       Date:  1981-01-22       Impact factor: 49.962

9.  Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase.

Authors:  K Koike; S Ohta; Y Urata; Y Kagawa; M Koike
Journal:  Proc Natl Acad Sci U S A       Date:  1988-01       Impact factor: 11.205

10.  A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.

Authors:  J P Blass; J Avigan; B W Uhlendorf
Journal:  J Clin Invest       Date:  1970-03       Impact factor: 14.808
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  1 in total

1.  A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.

Authors:  H Endo; S Miyabayashi; K Tada; K Narisawa
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  1 in total

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