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Paper · 24901367

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Yarham JW and 17 others. PLoS Genet, 2014. Cited by 120 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. Papers, record 24901367. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/24901367

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
PubMed
Journal
PLoS Genet
PubMed
Year
2014
PubMed
Publication types
Case Reports, Journal Article, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't
PubMed
Citations, by iCite
120
iCite
Relative citation ratio, by iCite
3.33
iCite
Revised in PubMed
2025-05-29
PubMed

Authors18

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

OrderAuthorForenameKindORCID iD
1Yarham JWJohn W
2Lamichhane TNTek N
3Pyle AAngela
4Mattijssen SSandy
5Baruffini EEnrico
6Bruni FFrancesco
7Donnini CClaudia
8Vassilev AAlex
9He LLangping
10Blakely ELEmma L

1 to 10 of 18Source PubMed

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Topics20

NLM's MeSH indexing of the paper, its major topics first.

MeSH termMajor
Alkyl and Aryl TransferasesMajor topic
Mitochondrial DiseasesMajor topic
SulfurtransferasesMajor topic
Cells, Cultured
Cytochrome-c Oxidase Deficiency
Cytosol
DNA, Mitochondrial
Electron Transport
Electron Transport Complex IV
Female
Humans
Male
Mitochondria
Protein Biosynthesis
RNA
RNA, Mitochondrial
RNA, Transfer
Saccharomyces cerevisiae
Schizosaccharomyces
Schizosaccharomyces pombe Proteins

Source PubMed

Grants8

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes itAgencyCountryNIH projectStated bySource
101876Wellcome TrustUnited KingdomPubMedPubMed
G0800674Medical Research CouncilUnited KingdomPubMedPubMed
101876/Z/13/ZWellcome TrustUnited KingdomPubMedPubMed
096919Wellcome TrustUnited KingdomPubMedPubMed
Intramural NIH HHSUnited StatesPubMedPubMed
MR/K000608/1Medical Research CouncilUnited KingdomPubMedPubMed
G0601943Medical Research CouncilUnited KingdomPubMedPubMed
ZIAHD000412NIHNIH RePORTER

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References45

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

OrderPMIDTitleJournalYearIn PapersSource
121,873,461Plasticity and diversity of tRNA anticodon determinants of substrate recognition by eukaryotic A37 isopentenyltransferases.RNA2011https://conductscience.org/library/papers/21873461PubMed
217,401,335Quick and easy yeast transformation using the LiAc/SS carrier DNA/PEG method.Nat Protoc2007https://conductscience.org/library/papers/17401335PubMed
32,990,894Amber, ochre and opal suppressor tRNA genes derived from a human serine tRNA gene.EMBO J1985https://conductscience.org/library/papers/2990894PubMed
42,744,487Site-directed mutagenesis by overlap extension using the polymerase chain reaction.Gene1989https://conductscience.org/library/papers/2744487PubMed
516,762,929Genetic analysis of human Orc2 reveals specific domains that are required in vivo for assembly and nuclear localization of the origin recognition complex.J Biol Chem2006https://conductscience.org/library/papers/16762929PubMed
611,560,893Regulation of physiological rates in Caenorhabditis elegans by a tRNA-modifying enzyme in the mitochondria.Genetics2001https://conductscience.org/library/papers/11560893PubMed
718,852,462Crystallographic snapshots of eukaryotic dimethylallyltransferase acting on tRNA: insight into tRNA recognition and reaction mechanism.Proc Natl Acad Sci U S A2008https://conductscience.org/library/papers/18852462PubMed
823,716,598Lack of tRNA modification isopentenyl-A37 alters mRNA decoding and causes metabolic deficiencies in fission yeast.Mol Cell Biol2013https://conductscience.org/library/papers/23716598PubMed
919,542,151VarScan: variant detection in massively parallel sequencing of individual and pooled samples.Bioinformatics2009https://conductscience.org/library/papers/19542151PubMed
1017,145,094Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival.Lung Cancer2007https://conductscience.org/library/papers/17145094PubMed

1 to 10 of 45

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Cited by86

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 120 citations.

PMIDTitleJournalYearIn PapersSource
42,839,971From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Front Epigenet Epigenom2026https://conductscience.org/library/papers/42839971PubMed
42,549,574MiaA-mediated tRNA modifications couple tryptophan attenuation and changes in tRNA abundance to complex phenotypes in Pseudomonas aeruginosa.Nucleic Acids Res2026https://conductscience.org/library/papers/42549574PubMed
42,493,708Mitochondrial RNA modifications in gene expression and cancer biology.MedScience2026https://conductscience.org/library/papers/42493708PubMed
42,391,044Defective queuosine and i6A/ms2i6A modification of tRNATyr cause frameshifting and protein aggregation.Nucleic Acids Res2026https://conductscience.org/library/papers/42391044PubMed
41,760,017A case report of combined oxidative phosphorylation deficiency 35 (COXPD35) in Palestine caused by novel compound heterozygous TRIT1 variants.Medicine (Baltimore)2026https://conductscience.org/library/papers/41760017PubMed
41,155,428Cytokinins Are Age- and Injury-Responsive Molecules That Regulate Skeletal Myogenesis.Int J Mol Sci2025https://conductscience.org/library/papers/41155428PubMed
41,154,608Transcription, Maturation and Degradation of Mitochondrial RNA: Implications for Innate Immune Response.Biomolecules2025https://conductscience.org/library/papers/41154608PubMed
40,527,925Selenium and selenoproteins: key regulators of ferroptosis and therapeutic targets in cancer.J Mol Med (Berl)2025https://conductscience.org/library/papers/40527925PubMed
39,719,325Mitochondrial tRNA modifications: functions, diseases caused by their loss, and treatment strategies.RNA2025https://conductscience.org/library/papers/39719325PubMed
39,280,612RNA-modifying enzyme Alkbh8 is involved in mouse embryonic development.iScience2024https://conductscience.org/library/papers/39280612PubMed

1 to 10 of 86

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Genes26

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

GeneNCBI Gene IDLinked byIn GenesSource
TRIT154,802Swiss-Prot's referenceshttps://conductscience.org/library/genes/54802NCBI Gene
ARSB411PubTator's text mininghttps://conductscience.org/library/genes/411NCBI Gene
CFAP4525,790PubTator's text mininghttps://conductscience.org/library/genes/25790NCBI Gene
COX4I11,327PubTator's text mininghttps://conductscience.org/library/genes/1327NCBI Gene
COX8A1,351PubTator's text mininghttps://conductscience.org/library/genes/1351NCBI Gene
CS1,431PubTator's text mininghttps://conductscience.org/library/genes/1431NCBI Gene
EIF4E1,977PubTator's text mininghttps://conductscience.org/library/genes/1977NCBI Gene
H6PD9,563PubTator's text mininghttps://conductscience.org/library/genes/9563NCBI Gene
MT-CYB4,519PubTator's text mininghttps://conductscience.org/library/genes/4519NCBI Gene
MT-ND14,535PubTator's text mininghttps://conductscience.org/library/genes/4535NCBI Gene

1 to 10 of 26

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Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed
2026-11-06
PubMed
iCite
2026-11-05
iCite
PMC's ID file
2026-11-05
PMC's ID file
NIH RePORTER's grant and paper links
2026-11-01
NIH RePORTER's grant and paper links
Trials
2026-11-12
Gene search
2026-11-11
Pipelines
2026-09-18

Sources 11

  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • HGNCCC0
  • iCiteCC BY 4.0
  • NCBI GenePublic domain (US government)
  • NIH RePORTER's grant and paper linksPublic domain
  • Open TargetsCC0 1.0
  • PMC's ID filePublic domain (US government)
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • HGNCCC0: https://www.genenames.org/about/license/
  • iCiteCC BY 4.0
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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