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Article

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.

Nature communications - 30 Jun 2016

Van Haute Lindsey, Dietmann Sabine, Kremer Laura, Hussain Shobbir, Pearce Sarah F, Powell Christopher A, Rorbach Joanna, Lantaff Rebecca, Blanco Sandra, Sauer Sascha, Kotzaeridou Urania, Hoffmann Georg F, Memari Yasin, Kolb-Kokocinski Anja, Durbin Richard, Mayr Johannes A, Frye Michaela, Prokisch Holger, Minczuk Michal

Abstract excerpt

Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized 5-methylcytosine (m(5)C) methyltransferase NSun3 and link m(5)C RNA modifications with energy metabolism. Using whole-exome sequencing, we identified loss-of-function mutations in NSUN3 in a patient...

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Identifiers

PMID: 27356879
DOI: 10.1038/ncomms12039
PMCID: PMC4931328

Genes

NSUN3

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.PMID 27356879Read ↗

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures.Semantic proximity Read ↗

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAsSemantic proximity Read ↗

Molecular basis of tRNA modification by the human m <sup>5</sup> C methyltransferase NSUN2Semantic proximity Read ↗

Three distinct 3-methylcytidine (m3C) methyltransferases modify tRNA and mRNA in mice and humans.Semantic proximity Read ↗

METTL8 is required for 3-methylcytosine modification in human mitochondrial tRNAsSemantic proximity Read ↗

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAsSemantic proximity Read ↗

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAsSemantic proximity Read ↗

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Semantic proximity Read ↗

Multiple links between 5-methylcytosine content of mRNA and translationSemantic proximity Read ↗

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesSemantic proximity Read ↗

The human mitochondrial 12S rRNA m <sup>4</sup> C methyltransferase METTL15 is required for proper mitochondrial functionSemantic proximity Read ↗

Mitochondrial tRNA modifications: functions, diseases caused by their loss, and treatment strategies.Semantic proximity Read ↗

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