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Article

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.

Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1993

Liu T C, Kim H, Arizmendi C, Kitano A, Patel M S

Abstract excerpt

The molecular basis of dihydrolipoamide dehydrogenase (E3; dihydrolipoamide:NAD+ oxidoreductase, EC 1.8.1.4) deficiency in an E3-deficient patient was studied. Fibroblasts cultured from the patient contained only approximately 6% of the E3 activity of cells from a normal subject. Western and Northern blot analyses indicated that, compared to control cells, the patient's cells had a reduced amount of protein but...

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Identifiers

PMID: 8506365
DOI: 10.1073/pnas.90.11.5186
PMCID: PMC46680

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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