Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase (Q34685835)

3 August 2017

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title

Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase (English)

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3 August 2017

Robinson BH

1

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3 August 2017

1 June 1988

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Journal of Bioenergetics and Biomembranes

3 August 2017

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3 August 2017

20

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3 August 2017

3

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3 August 2017

313-323

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https://scigraph.springernature.com/pub.10.1007/bf00769635

3 August 2017

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cites work

Alterations in phosphofructokinase isoenzymes during early human development. Establishment of adult organ-specific patterns

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Crossref

https://api.crossref.org/works/10.1007%2FBF00769635

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

21 January 2018

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12 December 2020

Pyridine nucleotides and rate control

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Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency

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Glucose transport and metabolism in cultured human skin fibroblasts

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Regulation of mammalian pyruvate dehydrogenase complex by a phosphorylation-dephosphorylation cycle

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Kinetic properties of human F4 phosphofructokinase: a poor regulatory enzyme

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Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

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Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia

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

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The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe

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Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

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

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Regulation of cellular energy metabolism

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Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

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A Defect in Branched-Chain Amino Acid Metabolism in a Patient with Congenital Lactic Acidosis due to Dihydrolipoyl Dehydrogenase Deficiency

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Regulation of cellular energy metabolism: the Crabtree effect

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The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

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Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

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12 December 2020

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

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Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

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12 December 2020

Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases

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Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid

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Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease

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Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation

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Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency

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Mitochondrial-cytosolic interactions in cardiac tissue: role of the malate-aspartate cycle in the removal of glycolytic NADH from the cytosol

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Mitochondrial 2-oxoacid dehydrogenase complexes of animal tissues

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Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.

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Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation

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12 December 2020

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

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12 December 2020

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

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12 December 2020

Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex

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12 December 2020

Identifiers

DOI

10.1007/BF00769635

1 reference

PubMed ID

3136149

Dimensions Publication ID

3 August 2017

1038810746

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Fatcat ID

release_xpwf2nskxncghht6dvgoqbi2ya

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xpwf2nskxncghht6dvgoqbi2ya

24 November 2022

mapped directly with Wikidata item

PubMed ID

3136149

1 reference

PubMed ID

3136149