Evidence map›Paper›PMID 36030551›Full record

ArticleHuman mutation2022

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy and 6 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 31% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. The role of CoQ10 in embryonic development.Journal of assisted reproduction and genetics · 2024
    Review
  5. Systems-level analyses dissociate genetic regulators of reactive oxygen species and energy production.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  6. NovelInternational journal of molecular sciences · 2023
    Article
  7. Article
  8. 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

16 authors at 7 institutions in 3 countries.

Rocio RiusBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.ORCID 0000-0002-9871-3126
Neal K BennettGladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, California, USA.ORCID 0000-0003-3120-4164
Kaustuv BhattacharyaGenetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.ORCID 0000-0003-0518-5879
Lisa G RileySpecialty of Child & Adolescent Health, University of Sydney, Sydney, Australia.ORCID 0000-0002-1142-316X
Zafer YükselDepartment of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.ORCID 0000-0002-2085-5773
Luke E FormosaDepartment of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia.ORCID 0000-0002-7740-6151
Alison G ComptonBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.ORCID 0000-0002-2725-7055
Russell C DaleDepartment of Paediatric Neurology and Clinical school, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Mark J CowleyChildren's Cancer Institute & School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID 0000-0002-9519-5714
Velimir GayevskiyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Saeed M Al TalaPediatric Directorate, Neonatal NICU, Armed Forces Hospital SR, Khamis Mushayt, Saudi Arabia.
Abdulrahman A AlmeheryPediatric Directorate, Neonatal NICU, Armed Forces Hospital SR, Khamis Mushayt, Saudi Arabia.
Michael T RyanDepartment of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.ORCID 0000-0003-2586-8829
David R ThorburnBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.ORCID 0000-0002-7725-9470
Ken NakamuraGladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, California, USA.ORCID 0000-0002-9192-182X
John ChristodoulouBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.ORCID 0000-0002-8431-0641
The University of Sydney · AURoyal Children's Hospital · AUArmed Forces Hospital · SAGladstone Institutes · USGarvan Institute of Medical Research · AUMonash University · AUUNSW Sydney · AU

Funding

Defining Strategies to Target Energy Failure in Metabolically Vulnerable Human CellsR01AG065428 · NIA · J. DAVID GLADSTONE INSTITUTES · PI NAKAMURA, KEN · 2020 to 2024
$3.7M
Bioenergetic and Proteolytic Impact of Ubiquitin-like Pathways in Metabolically Stressed NeuronsF32AG063457 · NIA · J. DAVID GLADSTONE INSTITUTES · PI BENNETT, NEAL · 2019 to 2021
$155k
NIA NIH HHS F32 AG063457NIA NIH HHS R01 AG065428
6 · The paper itself

Abstract

Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown decreased cellular adenosine triphosphate (ATP) derived from respiration, and that ATP levels could be restored with coenzyme Q

Indexed as

Mitochondrial DiseasesMitochondrial EncephalomyopathiesAdenosine TriphosphateCopper Transport ProteinsElectron Transport Chain Complex ProteinsHumansMitochondriaMitochondrial ProteinsAdenosine TriphosphateCopper Transport ProteinsCOX11 protein, humanElectron Transport Chain Complex ProteinsMitochondrial Proteinscoenzyme QCOX11mitochondrial disordersOXPHOS

Identifiers

PMID36030551
PMCPMC9771894
OpenAlexW4293399663

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.