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Article

Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia.

Pediatric research - 1 Jul 1991

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

Abstract excerpt

The deficiency of pyruvate dehydrogenase enzyme complex causes congenital lactic acidemia and devastating neurologic abnormalities in newborns and children. In the majority of cases, the basic defect appears to be in the pyruvate dehydrogenase (E1) component, which consists of two subunits, alpha...

Topics

Cells, Cultured
Child
Female
Fibroblasts
Genetic Variation
Humans
Lactates
Lactic Acid
Mitochondria
Protein Conformation
Protein Precursors
Protein Processing, Post-Translational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pyruvate Dehydrogenase (Lipoamide)

Pyruvate Dehydrogenase Complex

Pyruvate Dehydrogenase Complex Deficiency Disease

Source

Identifiers

PMID: 1909778
DOI: 10.1203/00006450-199107000-00003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1909778-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia.PMID 1909778Read ↗

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

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 ↗

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.Semantic proximity Read ↗

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

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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 ↗

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