(Q44123149)

30 November 2017

title

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene (English)

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30 November 2017

Runu Dey

1

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30 November 2017

Bernard Aral

series ordinal

2

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30 November 2017

Marc Abitbol

series ordinal

3

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30 November 2017

Cecile Marsac

series ordinal

4

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30 November 2017

publication date

1 August 2002

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Molecular Genetics and Metabolism

30 November 2017

published in

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30 November 2017

volume

76

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30 November 2017

issue

4

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30 November 2017

page(s)

344-347

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Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

30 November 2017

cites work

1 reference

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7 January 2021

Selective proteolysis of the protein X subunit of the bovine heart pyruvate dehydrogenase complex. Effects on dihydrolipoamide dehydrogenase (E3) affinity and enzymic properties of the complex

1 reference

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7 January 2021

Refolding and reconstitution studies on the transacetylase-protein X (E2/X) subcomplex of the mammalian pyruvate dehydrogenase complex: evidence for specific binding of the dihydrolipoamide dehydrogenase component to sites on reassembled E2

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Genetic defects in human pyruvate dehydrogenase

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Pyruvate dehydrogenase E3 binding protein deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

alpha-Thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene

1 reference

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7 January 2021

Evidence for splice site pairing via intron definition in Schizosaccharomyces pombe

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Exon recognition in vertebrate splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

A short sequence within two purine-rich enhancers determines 5' splice site specificity

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

Initial splice-site recognition and pairing during pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900104-X

7 January 2021

10.1016/S1096-7192(02)00104-X

Identifiers

DOI

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30 November 2017

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