Evidence map›Paper›PMID 34258143›Full record

ArticleJIMD reports2021

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al-Shidi, Eman Al-Obeid and 8 more

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

14 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026
    Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. A novel missense mutation inFrontiers in psychiatry · 2024
    Article
  9. Article
  10. Review
  11. Article
  12. A NovelGenes · 2021
    Article
  13. Review
  14. Article
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

18 authors at 4 institutions in 2 countries.

Mazhor AldosaryDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Shahad BaselmDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Maha AbdulrahimDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Rawan AlmassDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Maysoon AlsagobDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Zainab AlMasseriDepartment of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Rozeena HumaDepartment of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Laila AlQuaitDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Tarfa Al-ShidiDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Eman Al-ObeidDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Albandary AlBakheetDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Basma AlahidebDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Lujane AlahaidibDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Alya QariDepartment of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Robert W TaylorWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University Newcastle upon Tyne UK.
Dilek ColakDepartment of Biostatistics, Epidemiology, and Scientific Computing King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.ORCID https://orcid.org/0000-0001-6485-8768
Moeenaldeen D AlSayedDepartment of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
Namik KayaDepartment of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.ORCID https://orcid.org/0000-0001-8912-7507
King Faisal Specialist Hospital & Research Centre · SAAlfaisal University · SAKing Abdulaziz City for Science and Technology · SANewcastle upon Tyne Hospitals NHS Foundation Trust · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi-allelic homozygous missense variants in the

Indexed as

ATP productiondeep brain stimulationmitochondrial oxygen consumptionSLC25A42truncation

Identifiers

PMID34258143
PMCPMC8260478
OpenAlexW3159310975

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.