Evidence map›Paper›PMID 41998139›Full record

ArticleEMBO molecular medicine2026

Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1

Miguel Molina-Berenguer, Diego Herrero-Martínez, Antoni Vallbona-Garcia, Ferran Vila-Julià, Yolanda Cámara, África Vales, Gloria González-Aseguinolaza, Javier Torres-Torronteras, Ramon Martí

Abstract read
In one paragraph

Article in EMBO molecular medicine, 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.

Miguel Molina-BerenguerResearch Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.ORCID 0000-0001-8087-4709
Diego Herrero-MartínezPrograma de Investigación de Terapia Génica de Enfermedades Raras, División de Medicina de ADN y ARN, Centro de Investigación Médica Aplicada (CIMA), Pamplona, Spain.ORCID 0009-0004-7750-4861
Antoni Vallbona-GarciaResearch Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.ORCID 0000-0002-1946-3035
Ferran Vila-JuliàResearch Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.ORCID 0000-0002-3180-2749
Yolanda CámaraResearch Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.ORCID 0000-0003-2458-6942
África ValesPrograma de Investigación de Terapia Génica de Enfermedades Raras, División de Medicina de ADN y ARN, Centro de Investigación Médica Aplicada (CIMA), Pamplona, Spain.ORCID 0009-0000-4507-8117
Gloria González-AseguinolazaPrograma de Investigación de Terapia Génica de Enfermedades Raras, División de Medicina de ADN y ARN, Centro de Investigación Médica Aplicada (CIMA), Pamplona, Spain.ORCID 0000-0002-1600-4562
Javier Torres-TorronterasResearch Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. jtorres@barcelonabeta.org.ORCID 0000-0002-6092-9458
Ramon MartíResearch Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. ramon.marti@vhir.org.ORCID 0000-0002-8273-9540

Funding

Dona Pilar Millan-Cromomed Fellowship 01Fundacion Adey COXPD1Fundacion Mencia DRUG4_COXPD1Fundación Mutua Madrileña (Mutua Madrileña Foundation) AP176532021Generalitat de Catalunya (Government of Catalonia) DRUG4_COXPD1Ministerio de Ciencia e Innovación (MCIN) PRTR-C17.I1
6 · The paper itself

Abstract

Hepatoencephalopathy due to mutations in the nuclear gene GFM1, known as combined oxidative phosphorylation (OXPHOS) deficiency type I (COXPD1), is an autosomal recessive mitochondrial disease caused by defects or deficiency of the mitochondrial translation elongation factor G1 (EFG1), with no currently available cure. Patients with COXPD1 develop a severe encephalopathy, sometimes combined with liver failure, with neonatal onset and rapid progression that normally causes premature death. The Gfm1

Indexed as

DependovirusGenetic TherapyMitochondrial DiseasesPeptide Elongation Factor 1AnimalsBrainDisease Models, AnimalGenetic VectorsHumansLiverMiceMice, KnockoutMitochondriaOxidative PhosphorylationPeptide Elongation Factor 1

Identifiers

PMID41998139
PMCPMC13269562

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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.