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Article

Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.

The Journal of biological chemistry - 4 Jan 2008

Han Zongchao, Zhong Li, Srivastava Arun, Stacpoole Peter W

Abstract excerpt

Congenital deficiencies of the human pyruvate dehydrogenase (PDH) complex are considered to be due to loss of function mutations in one of the component enzymes. Here we describe a case of PDH deficiency associated with the PDH E1beta subunit (PDHB) gene. The clinical phenotype of the patient was consistent with reported cases of PDH deficiency. Cultured skin fibroblasts demonstrated a 55% reduction in PDH...

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Source

Identifiers

PMID: 17923481
DOI: 10.1074/jbc.M704748200

Genes

PDHB
EGFR
PDHA1
PDC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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