Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Journal of inherited metabolic disease - 1 Jan 1992

Ito M, Huq A H, Naito E, Saijo T, Takeda E, Kuroda Y

Abstract excerpt

A mutation of an insertion of 4 bp in the gene for the alpha subunit of pyruvate dehydrogenase (E1 alpha) was found in a female with pyruvate dehydrogenase deficiency due to the rapid degradation of alpha and beta subunit proteins of pyruvate dehydrogenase. This mutation caused a frameshift that altered the amino acid sequence and created a premature stop codon. This 4-bp insertion has been found in an unrelated...

Topics

Alleles
Base Sequence
Cloning, Molecular
DNA
DNA Transposable Elements
Exons
Female
Frameshift Mutation
Heterozygote
Humans
Infant
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Pyruvate Dehydrogenase (Lipoamide)

Pyruvate Dehydrogenase Complex

Pyruvate Dehydrogenase Complex Deficiency Disease

Source

Identifiers

PMID: 1338114
DOI: 10.1007/BF01800220

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1338114-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.PMID 1338114Read ↗

Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.Semantic proximity Read ↗

Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.Semantic proximity Read ↗

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.Semantic proximity Read ↗

A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.Semantic proximity Read ↗

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.Semantic proximity Read ↗

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.Semantic proximity Read ↗

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.Semantic proximity Read ↗

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.