Evidence map›Paper›PMID 31557978›Full record

ArticleCells2019

Mutations in

Yang Ni, Muhammad A Hagras, Vassiliki Konstantopoulou, Johannes A Mayr, Alexei A Stuchebrukhov, David Meierhofer

Open access · goldAbstract read
In one paragraph

Article in Cells, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
2.0field-weighted citation impact, top 13% 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

42 citing papers in PubMed, 69 citations in OpenAlex.

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  16. Restoration of pp60International journal of molecular sciences · 2025
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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

6 authors at 6 institutions in 4 countries.

Yang NiMass Spectrometry Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Muhammad A HagrasDepartment of Chemistry, University of California Davis, Davis, CA 95616, USA.
Vassiliki KonstantopoulouDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.
Johannes A MayrDepartment of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
Alexei A StuchebrukhovDepartment of Chemistry, University of California Davis, Davis, CA 95616, USA.
David MeierhoferMass Spectrometry Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. meierhof@molgen.mpg.de.
Massachusetts Institute of Technology · USMax Planck Institute for Molecular Genetics · DEMedical University of Vienna · ATParacelsus Medical University · ATUniversity of California, Davis · USVIB-KU Leuven Center for Cancer Biology · BE

Funding

Theoretical Study of Charge Transfer in Cytochrome C OxidaseR01GM054052 · NIGMS · UNIVERSITY OF CALIFORNIA DAVIS · PI STUCHEBRUKHOV, ALEXEI A · 2002 to 2021
$3.3M
THEORETICAL STUDY OF BIOLOGICAL ELECTRON TRANSFERR29GM054052 · NIGMS · UNIVERSITY OF CALIFORNIA DAVIS · PI STUCHEBRUKHOV, ALEXEI A · 1996 to 2000
$101k
NIGMS NIH HHS R01 GM054052NIGMS NIH HHS R29 GM054052
6 · The paper itself

Abstract

Complex I (CI) is the first enzyme of the mitochondrial respiratory chain and couples the electron transfer with proton pumping. Mutations in genes encoding CI subunits can frequently cause inborn metabolic errors. We applied proteome and metabolome profiling of patient-derived cells harboring pathogenic mutations in two distinct CI genes to elucidate underlying pathomechanisms on the molecular level. Our results indicated that the electron transfer within CI was interrupted in both patients by different mechanisms. We showed that the biallelic mutations in

Indexed as

Case-Control StudiesCells, CulturedCellular ReprogrammingDNA Mutational AnalysisElectron TransportEnergy MetabolismFemaleHumansInfantInfant, NewbornMaleMetabolism, Inborn ErrorsMetabolomeModels, MolecularNADH DehydrogenasePregnancyNADH DehydrogenaseNDUFS1 protein, humanProteomecomplex I (CI) deficiencyelectron tunneling (ET)metabolome and proteome profilingreactive oxygen species (ROS)respirasome assembly

Identifiers

PMID31557978
PMCPMC6829531
OpenAlexW2975932127

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.