Paper · 2102678

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Goto Y and 2 others. Nature, 1990. Cited by 1,821 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Papers, record 2102678. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/2102678

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Paper

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

Title: A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.; PubMed
Journal: Nature; PubMed
Year: 1990; PubMed
Publication types: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/2102678/; PubMed
DOI: https://doi.org/10.1038/348651a0; PubMed
The journal: https://conductscience.org/library/journal-index/0410462; PubMed
Citations, by iCite: 1,821; iCite
Relative citation ratio, by iCite: 43.1; iCite
Revised in PubMed: 2022-04-08; PubMed

Authors3

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

Order	Author	Forename
1	Goto Y	Y
2	Nonaka I	I
3	Horai S	S

Source PubMed

Topics11

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

MeSH term	Major
Brain Diseases	Major topic
Mitochondria, Muscle	Major topic
Mutation	Major topic
RNA, Transfer, Leu	Major topic
Base Sequence
Humans
Male
Molecular Sequence Data
Reference Values
Restriction Mapping
Sequence Homology, Nucleic Acid

Source PubMed

Grants0

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.

None in this release.

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 corrections1

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

Kind	PMID	Title	In Papers
Comment in	1,710,318	Mitochondrial base prediction.	https://conductscience.org/library/papers/1710318

Source PubMed

References0

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

None in this release.

Cited by602

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 1,821 citations.

PMID	Title	Journal	Year	In Papers	Source
42,818,327	Temporal control of mitochondrial mutagenesis reveals the fate of mtDNA mutations with age.	bioRxiv	2026	https://conductscience.org/library/papers/42818327	PubMed
42,800,701	Genetics of type 2 diabetes: Beyond single nucleotide variant studies.	Mol Metab	2026	https://conductscience.org/library/papers/42800701	PubMed
42,709,484	Allotopic expression of ND6 restores vision in a mitochondrial disease model.	JCI Insight	2026	https://conductscience.org/library/papers/42709484	PubMed
42,639,396	Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.	Neurol Genet	2026	https://conductscience.org/library/papers/42639396	PubMed
42,621,236	Severe mitochondrial cardiomyopathy with m.3303C > T variant in the mitochondrial tRNALeu(UUR) gene: A study of large family analysis.	Mol Genet Metab Rep	2026	https://conductscience.org/library/papers/42621236	PubMed
42,594,166	Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease.	Circ Res	2026	https://conductscience.org/library/papers/42594166	PubMed
42,543,814	Glioblastoma in a Patient With MELAS Syndrome: A Case Report.	Brain Tumor Res Treat	2026	https://conductscience.org/library/papers/42543814	PubMed
42,493,708	Mitochondrial RNA modifications in gene expression and cancer biology.	MedScience	2026	https://conductscience.org/library/papers/42493708	PubMed
42,360,551	Targeting mtDNA to Modulate Mitochondrial Dysfunction in Neurodegenerative Diseases.	Mol Neurobiol	2026	https://conductscience.org/library/papers/42360551	PubMed
42,255,925	Expanding the landscape of tRNA pathogenic variants in mitochondrial DNA.	Brain Commun	2026	https://conductscience.org/library/papers/42255925	PubMed

1 to 10 of 602

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Genes0

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None in this release.

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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