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.

doi:10.1016/0006-291x(90)90723-z

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Article

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.

Biochemical and biophysical research communications - 30 Oct 1990

Matsuda I, Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Asaka J, Harada A

Abstract excerpt

We cloned and sequenced cDNAs of the E1 alpha and E1 beta subunits of the branched chain alpha-ketoacid dehydrogenase complex (BCKDH) in two cell lines derived from two different Menonite MSUD patients (GM 1655, GM 1099). A T-to-A substitution which generates an asparagine in place of a tyrosine...

Topics

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Adenine
Alleles
Amino Acid Sequence
Animals
Base Sequence
Cell Line
Cloning, Molecular
Ethnicity
Genes
Ketone Oxidoreductases
Macromolecular Substances
Maple Syrup Urine Disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Multienzyme Complexes

Nucleic Acid Hybridization

Oligonucleotide Probes

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 2241958
DOI: 10.1016/0006-291x(90)90723-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2241958-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.