Literature DB >> 3018357

Disorders of the pyruvate dehydrogenase complex.

D Stansbie, S J Wallace, C Marsac.   

Abstract

Pyruvate dehydrogenase deficiency may be a non-specific consequence of many different neurological degenerative disorders. There are also serious methodological problems in estimating the activity of this enzyme complex.

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Year:  1986        PMID： 3018357     DOI： 10.1007/bf01799447

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


  64 in total

Review 1.  The mammalian pyruvate dehydrogenase complex: structure and regulation.

Authors:  O H Wieland
Journal:  Rev Physiol Biochem Pharmacol       Date:  1983       Impact factor: 5.545

2.  Reduced enzyme activities in inherited ataxia.

Authors:  P Kark; D Becker; S Perlman
Journal:  Ann Neurol       Date:  1980-09       Impact factor: 10.422

3.  Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts.

Authors:  S Sorbi; J P Blass
Journal:  J Biochem Biophys Methods       Date:  1981-09

4.  Hyper-endorphin syndrome in a child with necrotizing encephalomyelopathy.

Authors:  N J Brandt; L Terenius; B B Jacobsen; L Klinken; A Nordius; S Brandt; K Blegvad; M Yssing
Journal:  N Engl J Med       Date:  1980-10-16       Impact factor: 91.245

5.  Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.

Authors:  R A Kark; M Rodriguez-Budelli
Journal:  Neurology       Date:  1979-01       Impact factor: 9.910

6.  Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).

Authors:  B Kustermann-Kuhn; K Harzer; R Schröder; W Permanetter; J Peiffer
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.

Authors:  S Matuda; A Kitano; Y Sakaguchi; M Yoshino; T Saheki
Journal:  Clin Chim Acta       Date:  1984-06-27       Impact factor: 3.786

8.  Fatal case of pyruvate dehydrogenase deficiency.

Authors:  M Matsuo; K Ookita; H Takemine; K Koike; M Koike
Journal:  Acta Paediatr Scand       Date:  1985-01

9.  Pyruvate dehydrogenase deficiency restricted to brain.

Authors:  M Prick; F Gabreëls; W Renier; F Trijbels; H Jaspar; K Lamers; J Kok
Journal:  Neurology       Date:  1981-04       Impact factor: 9.910

10.  An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.

Authors:  J P Blass; J D Schulman; D S Young; E Hom
Journal:  J Clin Invest       Date:  1972-07       Impact factor: 14.808
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  12 in total

1.  Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.

Authors:  H R Scholte; H F Busch; I E Luyt-Houwen
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  A new type of neuronal cytoplasmic inclusion: histological, ultrastructural, and immunocytochemical studies.

Authors:  E O Lew; B Rozdilsky; D G Munoz; G Perry
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088

4.  Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.

Authors:  A Kitano; F Endo; I Matsuda; S Miyabayashi; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.

Authors:  D J Byrd; H P Krohn; L Winkler; C Steinborn; M Hadam; J Brodehl; D H Hunneman
Journal:  Eur J Pediatr       Date:  1989-04       Impact factor: 3.183

Review 6.  Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Authors:  W Sperl; W Ruitenbeek; C M Kerkhof; R C Sengers; J M Trijbels; J P Guggenbichler; A J Janssen; J A Bakkeren
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

7.  Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.

Authors:  M A Birch-Machin; I M Shepherd; M Solomon; S J Yeaman; D Gardner-Medwin; H S Sherratt; J G Lindsay; A Aynsley-Green; D M Turnbull
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

8.  An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Authors:  F Takakubo; P Cartwright; N Hoogenraad; D R Thorburn; F Collins; T Lithgow; H H Dahl
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

Review 9.  The biochemical basis of mitochondrial diseases.

Authors:  H R Scholte
Journal:  J Bioenerg Biomembr       Date:  1988-04       Impact factor: 2.945

10.  Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.

Authors:  I D Wexler; D S Kerr; L Ho; M M Lusk; R A Pepin; A A Javed; J E Mole; B W Jesse; T J Thekkumkara; G Pons
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205
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