Evidence map›Paper›PMID 38316953›Full record

ArticleEuropean journal of human genetics : EJHG2024

Mutations of GEMIN5 are associated with coenzyme Q

Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro J Moreno-Lozano and 16 more

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.3field-weighted citation impact, top 12% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Coenzyme QFree radical biology & medicine · 2025
    Article
  3. Looking back at 2024 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2025
    Article
  4. Article
  5. Article
  6. Artificial intelligence - the next generation of sequencing?European journal of human genetics : EJHG · 2024
    Article
  7. Review
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

26 authors at 7 institutions in 3 countries.

Marivi V Cascajo-Almenara *Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Natalia Juliá-Palacios *Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Roser UrreiztiCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.ORCID 0000-0003-3617-7134
Ana Sánchez-CuestaCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Daniel M Fernández-AyalaCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Elena García-DíazCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain.ORCID 0000-0003-1881-6908
Clara OlivaInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Maria Del Mar O CallaghanInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Abraham J Paredes-FuentesDivision of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08028, Barcelona, Spain.ORCID 0000-0002-7163-2385
Pedro J Moreno-LozanoInternal Medicine Department, Clinic Hospital and University of Barcelona, 08036, Barcelona, Spain.ORCID 0000-0002-5501-5272
Jordi MuchartInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Andres NascimentoCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Carlos I OrtezInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Daniel Natera-de BenitoInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.ORCID 0000-0001-7764-2085
Mercedes PinedaInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Noelia RiveraInstitut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.
Tyler R FortunaDepartment of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA.
Deepa S RajanDepartment of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA.
Plácido NavasCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain.ORCID 0000-0002-4115-7966
Leonardo SalviatiClinical Genetics Unit, Department of Women and Children's Health, Padua University, 35128, Padua, Italy.ORCID 0000-0001-5642-9963
Francesc PalauCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.ORCID 0000-0002-8635-5421
Delia YuberoCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Angels García-CazorlaCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Udai Bhan PandeyDepartment of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA. udai@pitt.edu.ORCID 0000-0002-6267-0179
Carlos Santos-OcañaCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. csanoca@upo.es.ORCID 0000-0002-2379-796X
Rafael ArtuchCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. Rafael.artuch@sjd.es.ORCID 0000-0002-3422-9685
Hospital Sant Joan de Déu Barcelona · ESInstituto de Salud Carlos III · ESChildren's Hospital of Pittsburgh · USCentro Andaluz de Biología del Desarrollo · ESHospital Clínic de Barcelona · ESUniversitat de Barcelona · ESUniversity of Padua · IT

Funding

Identifying the molecular mechanisms of GEMIN5 mutations in a novel cerebellar ataxia syndromeR01NS134215 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Udai B Pandey · 2023 to 2026
$2.1M
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI20-00340Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI20/00541NINDS NIH HHS R01 NS134215
6 · The paper itself

Abstract

GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this disease. We treated two of these patients with oral Coenzyme Q

Indexed as

AtaxiaMitochondrial DiseasesMuscle WeaknessUbiquinoneAdultFollow-Up StudiesHumansMutationSMN Complex ProteinsGEMIN5 protein, humanSMN Complex ProteinsUbiquinone

Identifiers

PMID38316953
PMCPMC10999423
OpenAlexW4391536170

What OpenQuestion holds

Textmetadata
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.