Evidence map›Paper›PMID 41972687›Full record

ArticleCells2026

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported

Graeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo, Anna Ligezka, Carlos Alberto de Moura Aschoff, Fabiano Poswar, Ida Vanessa D Schwartz, Tamas Kozicz, Eva Morava

Abstract read
In one paragraph

Article in Cells, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Graeme PrestonDepartment of Clinical Genomics, Mayo Clinic, 200 1st St. SW, Rochester, MN 55905, USA.ORCID 0000-0001-6810-9326
Ibrahim ShammasDepartment of Clinical Genomics, Mayo Clinic, 200 1st St. SW, Rochester, MN 55905, USA.ORCID 0000-0002-1486-9722
Filippo Pinto E VairoDepartment of Clinical Genomics, Mayo Clinic, 200 1st St. SW, Rochester, MN 55905, USA.ORCID 0000-0001-6030-1903
Anna LigezkaDepartment of Clinical Genomics, Mayo Clinic, 200 1st St. SW, Rochester, MN 55905, USA.
Carlos Alberto de Moura AschoffPost Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Avenida Osvaldo Aranha, 338, Porto Alegre 90040-060, RS, Brazil.ORCID 0009-0008-1799-4589
Fabiano PoswarPost Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Avenida Osvaldo Aranha, 338, Porto Alegre 90040-060, RS, Brazil.ORCID 0000-0002-0804-2876
Ida Vanessa D SchwartzPost Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Avenida Osvaldo Aranha, 338, Porto Alegre 90040-060, RS, Brazil.
Tamas KoziczDepartment of Clinical Genomics, Mayo Clinic, 200 1st St. SW, Rochester, MN 55905, USA.
Eva MoravaDepartment of Clinical Genomics, Mayo Clinic, 200 1st St. SW, Rochester, MN 55905, USA.ORCID 0000-0001-7441-700X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionUbiquinol-cytochrome c reductase core protein II (

methodsWe reviewed the biochemical phenotypes of 14 individuals possessing

resultsWe report reduced CIII activity in a majority of individuals possessing variants in DISCUSSION: These data expand the current understanding of genotypes associated with

Indexed as

Electron Transport Complex IIILiver DiseasesMitochondrial DiseasesChildChild, PreschoolFemaleFibroblastsHumansMaleMitochondriaMutationOxidative PhosphorylationPhenotypeElectron Transport Complex IIIcomplex IIIhyperammonemiamicrodeletion 16p12.2mitochondrialOXPHOSSeahorse

Identifiers

PMID41972687
PMCPMC13072357

What OpenQuestion holds

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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.