Evidence map›Paper›PMID 37392700›Full record

ArticleMolecular genetics and metabolism2023

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ

Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M de Gusmao, Tomi L Toler and 3 more

Open access · greenAbstract read
In one paragraph

Article in Molecular genetics and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 17% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Bypass Treatments for Primary Coenzyme Q10 Deficiency: An Update.International journal of molecular sciences · 2026
    Review
  4. Review
  5. Article
  6. Article
  7. Understanding coenzyme Q.Physiological reviews · 2024
    Review
  8. COQ7 defect causes prenatal onset of mitochondrial CoQEuropean journal of human genetics : EJHG · 2024
    Article
  9. Article
  10. Article
  11. 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

13 authors at 8 institutions in 3 countries.

Parith WongkittichoteDivision of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Maria Laura Duque LasioDivision of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA.
Martina MagistratiDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Sheel PathakDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.
Brooke SampleHSHS St. Vincent Hospital, Green Bay, WI, USA.
Daniel Rocha CarvalhoSARAH Network Rehabilitation Hospitals, Genetic Unit, Brasilia, Federal District, Brazil.
Adriana Banzzatto OrtegaHospital Infantil Pequeno Príncipe, Curitiba, Brazil.
Matheus Augusto Araújo CastroMendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil.
Claudio M de GusmaoMendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil.
Tomi L TolerDivision of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA.
Emanuele BellacchioMolecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Cristina DallabonaDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy. Electronic address: cristina.dallabona@unipr.it.
Marwan ShinawiDivision of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.
St. Louis Children's Hospital · USMendelics · BRUniversity of Parma · ITBambino Gesù Children's Hospital · ITHospital Erasto Gaertner · BRSarah Network of Rehabilitation Hospitals · BRSt. Vincent Hospital · USWashington University in St. Louis · US

Funding

WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY, Natasha Marrus · 2020 to 2026
$15.5M
NICHD NIH HHS P50 HD103525
6 · The paper itself

Abstract

Primary coenzyme Q10 (CoQ

Indexed as

Mitochondrial DiseasesUbiquinoneAtaxiaHumansInfant, NewbornMitochondriaMuscle WeaknessUbiquinoneubiquinone 7Functional studyHereditary neuropathyMitochondrial disorderPrimary CoQ10 deficiencyYeast model

Identifiers

PMID37392700
PMCPMC10995746
OpenAlexW4381620741

What OpenQuestion holds

Textmetadata
LicenceTDM
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.