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Article

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

The Journal of clinical investigation - 1 Apr 1994

Kamijo T, Wanders R J, Saudubray J M, Aoyama T, Komiyama A, Hashimoto T

Abstract excerpt

We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experiments indicated that...

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Identifiers

PMID: 8163672
DOI: 10.1172/JCI117158
PMCID: PMC294231

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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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Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.PMID 8163672Read ↗

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