Evidence map›Paper›PMID 30949583›Full record

ArticleScience advances2019

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse.

R Filograna, C Koolmeister, M Upadhyay, A Pajak, P Clemente, R Wibom, M L Simard, A Wredenberg, C Freyer, J B Stewart and 1 more

Open access · goldAbstract read
In one paragraph

Article in Science advances, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.

0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed
5.5field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

82 citing papers in PubMed, 159 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. [Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2025
    Article
  7. Article
  8. Article
  9. Nanomaterial-induced mitochondrial biogenesis enhances intercellular mitochondrial transfer efficiency.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  10. Article
  11. Article
  12. Article
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  14. Article
  15. Article
  16. Review
  17. A rareTranslational pediatrics · 2025
    Article
  18. Review
  19. Article
  20. Article

22 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

R FilogranaDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.
C KoolmeisterDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.ORCID 0000-0002-4052-3442
M UpadhyayDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.ORCID 0000-0001-7092-0468
A PajakDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.ORCID 0000-0001-8294-9620
P ClementeDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.
R WibomCenter for Inherited Metabolic Diseases, Karolinska University Hospital, S-171 76 Stockholm, Sweden.
M L SimardDepartment of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany.ORCID 0000-0002-0944-0323
A WredenbergDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.
C FreyerDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.
J B StewartDepartment of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany.ORCID 0000-0002-2902-4968
N G LarssonDivision of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 76 Stockholm, Sweden.
Karolinska Institutet · SEKarolinska University Hospital · SEMax Planck Institute for Biology of Ageing · DE

Funding

European Research Council 741366
6 · The paper itself

Abstract

Heteroplasmic mtDNA mutations typically act in a recessive way and cause mitochondrial disease only if present above a certain threshold level. We have experimentally investigated to what extent the absolute levels of wild-type (WT) mtDNA influence disease manifestations by manipulating TFAM levels in mice with a heteroplasmic mtDNA mutation in the tRNA

Indexed as

DNA Copy Number VariationsMutationAnimalsCardiomyopathiesCytochrome-c Oxidase DeficiencyDNA, MitochondrialFemaleMaleMiceMice, Inbred C57BLMitochondriaMitochondrial DiseasesMyocytes, CardiacPhenotypeDNA, Mitochondrial

Identifiers

PMID30949583
PMCPMC6447380
OpenAlexW2927901935

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.