(Q41180820)

27 September 2017

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title

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex (English)

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27 September 2017

B H Robinson

1

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27 September 2017

N MacKay

series ordinal

2

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27 September 2017

K Chun

series ordinal

3

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27 September 2017

M Ling

series ordinal

4

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27 September 2017

1 January 1996

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Journal of Inherited Metabolic Disease

27 September 2017

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27 September 2017

19

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27 September 2017

4

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27 September 2017

452-462

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https://scigraph.springernature.com/pub.10.1007/bf01799106

27 September 2017

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cites work

The activities of pyruvate carboxylase, phosphoenolpyruvate carboxylase and fructose diphosphatase in muscles from vertebrates and invertebrates

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799106

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01799106

Primary amino acid sequence and structure of human pyruvate carboxylase

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799106

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

21 January 2018

1 reference

12 December 2020

The expression pattern of the pyruvate dehydrogenase E1 alpha subunit genes during spermatogenesis in adult mouse

1 reference

12 December 2020

Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases)

1 reference

12 December 2020

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

1 reference

12 December 2020

A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4

1 reference

12 December 2020

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

1 reference

12 December 2020

cDNA cloning of human kidney pyruvate carboxylase

1 reference

12 December 2020

Carboxylation and decarboxylation reactions. Anaplerotic flux and removal of citrate cycle intermediates in skeletal muscle

1 reference

12 December 2020

Directional antisense and sense cDNA cloning using Epstein-Barr virus episomal expression vectors

1 reference

12 December 2020

Mitochondrial 2-oxoacid dehydrogenase complexes of animal tissues

1 reference

12 December 2020

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

1 reference

12 December 2020

Diseases of the mitochondrial DNA.

1 reference

12 December 2020

The Mr-50 000 polypeptide of mammalian pyruvate dehydrogenase complex participates in the acetylation reactions

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes

1 reference

12 December 2020

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation

1 reference

12 December 2020

Lacticacidemia. Biochemical, clinical, and genetic considerations

1 reference

12 December 2020

Pyruvate carboxylase: an astrocyte-specific enzyme implicated in the replenishment of amino acid neurotransmitter pools

1 reference

12 December 2020

1 reference

12 December 2020

Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

1 reference

12 December 2020

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

1 reference

12 December 2020

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799106

1 reference

Dimensions Publication ID

27 September 2017

0 references

1 reference