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Article

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Journal of inherited metabolic disease - 1 Jan 2016

Djouadi Fatima, Habarou Florence, Le Bachelier Carole, Ferdinandusse Sacha, Schlemmer Dimitri, Benoist Jean François, Boutron Audrey, Andresen Brage S, Visser Gepke, de Lonlay Pascale, Olpin Simon, Fukao Toshiyuki, Yamaguchi Seiji, Strauss Arnold W, Wanders Ronald J A, Bastin Jean

Abstract excerpt

Mitochondrial trifunctional protein (MTP) deficiency caused by HADHA or HADHB gene mutations exhibits substantial molecular, biochemical, and clinical heterogeneity and ranks among the more severe fatty acid oxidation (FAO) disorders, without pharmacological treatment. Since bezafibrate has been shown to potentially correct other FAO disorders in patient cells, we analyzed its effects in 26 MTP-deficient patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26109258
DOI: 10.1007/s10545-015-9871-3

Genes

HADHA
HADHB

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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