Evidence map›Paper›PMID 39759098›Full record

ArticleMolecular genetics and metabolism reports2025

Identification of a new

María Alcázar-Fabra, Elsebet Østergaard, Daniel J M Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María Del Mar Blanquer-Roselló, Abigail K Bartlett, Ana Sánchez-Cuesta and 7 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

17 authors.

María Alcázar-FabraAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
Elsebet ØstergaardDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Daniel J M Fernández-AyalaAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
María Andrea DesbatsClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Valeria MorbidoniClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Laura Tomás-GalladoProteomics and Biochemistry Platform, Andalusian Centre for Developmental Biology (CABD), CSIC-Pablo de Olavide University, 41013 Seville, Spain.
Laura García-CorzoAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
María Del Mar Blanquer-RosellóAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
Abigail K BartlettDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA.
Ana Sánchez-CuestaAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
Lucía SenaPhysiology, Anatomy and Cell Biology Department, Universidad Pablo de Olavide, 41013 Seville, Spain.
Ana Cortés-RodríguezBioenergetics and Cell Physiology Service (U729), Central Services of Research, University Pablo de Olavide, 41013 Seville, Spain.
María Victoria Cascajo-AlmenaraAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
David J PagliariniDepartment of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Eva TrevissonClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Sabine W GronborgCenter for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Gloria Brea-CalvoAndalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.

Funding

Systems-to-structure approaches for defining mitochondrial protein functionR35GM131795 · NIGMS · WASHINGTON UNIVERSITY · PI David J Pagliarini · 2019 to 2026
$4.8M
NIGMS NIH HHS R35 GM131795
6 · The paper itself

Abstract

Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by Materials and methods: Both fibroblasts from a proband with Results: Here, we report the case of a subject harboring a new variant of the Conclusion: Our results highlight the importance of expanding the genetic analysis beyond the coding sequence to reduce the misdiagnosis of primary CoQ deficiency patients.

Indexed as

Coenzyme Q10 deficiencyCOQ4Hybrid minigeneMitochondrial disorderSpliceogenic variantWES

Identifiers

PMID39759098
PMCPMC11699292

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.