(Q41074882)

26 September 2017

title

Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease (English)

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26 September 2017

B B McConnell

1

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26 September 2017

B Burkholder

series ordinal

2

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26 September 2017

D J Danner

series ordinal

3

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26 September 2017

publication date

1 October 1997

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Biochimica et Biophysica Acta

26 September 2017

published in

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26 September 2017

volume

1361

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26 September 2017

issue

3

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26 September 2017

page(s)

263-271

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Maple syrup urine disease 1954 to 1993.

26 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Site-directed mutagenesis and functional analysis of the active-site residues of the E2 component of bovine branched-chain alpha-keto acid dehydrogenase complex.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

The 2-oxo acid dehydrogenase complexes: recent advances

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

A common structural motif in thiamin pyrophosphate-binding enzymes

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

The relationships between transketolase, yeast pyruvate decarboxylase and pyruvate dehydrogenase of the pyruvate dehydrogenase complex.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Antibodies to bovine liver branched-chain 2-oxo acid dehydrogenase cross-react with this enzyme complex from other tissues and species

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Influence of subunit transcript and protein levels on formation of a mitochondrial multienzyme complex.

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Derivation of specific antibody-producing tissue culture and tumor lines by cell fusion

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7 January 2021

Detection of single base changes in nucleic acids

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7 January 2021

Three-dimensional structure of transketolase, a thiamine diphosphate dependent enzyme, at 2.5 A resolution.

1 reference

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7 January 2021

Identification of the tryptophan residue in the thiamin pyrophosphate binding site of mammalian pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Arginine-239 in the beta subunit is at or near the active site of bovine pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Refined structure of transketolase from Saccharomyces cerevisiae at 2.0 A resolution

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

Three-dimensional structure of apotransketolase flexible loops at the active site enable cofactor binding

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900046-X

7 January 2021

10.1016/S0925-4439(97)00046-X

Identifiers

DOI

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26 September 2017

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