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Article

Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis.

Scientific reports - 18 Jan 2018

Boutoual Rachid, Meseguer Salvador, Villarroya Magda, Martín-Hernández Elena, Errami Mohammed, Martín Miguel A, Casado Marta, Armengod M-Eugenia

Abstract excerpt

Human proteins MTO1 and GTPBP3 are thought to jointly catalyze the modification of the wobble uridine in mitochondrial tRNAs. Defects in each protein cause infantile hypertrophic cardiomyopathy with lactic acidosis. However, the underlying mechanisms are mostly unknown. Using fibroblasts from an MTO1 patient and MTO1 silenced cells, we found that the MTO1 deficiency is associated with a metabolic reprogramming...

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Source

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Identifiers

PMID: 29348686
DOI: 10.1038/s41598-018-19587-5
PMCID: PMC5773609

Genes

MTO1
GTPBP3
UCP2

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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