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Article

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.

Human molecular genetics - 15 Nov 2013

Boczonadi Veronika, Smith Paul M, Pyle Angela, Gomez-Duran Aurora, Schara Ulrike, Tulinius Mar, Chinnery Patrick F, Horvath Rita

Abstract excerpt

Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key to treatments of...

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Source

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Identifiers

PMID: 23814040
DOI: 10.1093/hmg/ddt309
PMCID: PMC3889809

Genes

TRMU

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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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.PMID 23814040Read ↗

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.Semantic proximity Read ↗

Reversible infantile mitochondrial diseases.Semantic proximity Read ↗

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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.Semantic proximity Read ↗

Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).Semantic proximity Read ↗

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencySemantic proximity Read ↗

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