Evidence map›Paper›PMID 42035262›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2026

Hepatic gene replacement improves energy metabolism and survival in a mouse model of neonatal mitochondrial disease GRACILE syndrome.

Rishi Banerjee, Janne Purhonen, Nasrin Sultana, Oliver Ros, Anni I Nieminen, Christa Kietz, Vineta Fellman, Jukka Kallijärvi

Abstract read
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In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 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

8 authors.

Rishi BanerjeeFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Janne PurhonenFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland; Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet, 14152 Huddinge, Sweden.
Nasrin SultanaFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Oliver RosFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Anni I NieminenStem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland; Helsinki Metabolomics Center, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Christa KietzFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Vineta FellmanFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland; Department of Clinical Sciences, Lund, Pediatrics, Lund University, P.O. Box 117, 22100 Lund, Sweden; Children's Hospital, Clinicum, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Jukka KallijärviFolkhälsan Research Center, Haartmaninkatu 8, 00290 Helsinki, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland. Electronic address: jukka.kallijarvi@helsinki.fi.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Preclinical gene therapy studies of mitochondrial diseases remain limited due to the typically multi-organ manifestations and the scarcity of physiologically relevant animal models. Mutations in BCS1L, a nuclear gene encoding an assembly factor for mitochondrial complex III (CIII), are the most common cause of CIII deficiency. The most severe phenotype, GRACILE syndrome, is caused by a homozygous Finnish founder mutation (c.A232G, p.S78G). The corresponding Bcs1l

Indexed as

ATPases Associated with Diverse Cellular ActivitiesElectron Transport Complex IIIEnergy MetabolismGenetic TherapyLiverMitochondrial DiseasesRenal AminoaciduriasAcidosis, LacticAnimalsCholestasisDependovirusDisease Models, AnimalFetal Growth RetardationGene Therapy AgentsGenetic VectorsHemosiderosisATPases Associated with Diverse Cellular ActivitiesBCS1L protein, mouseElectron Transport Complex IIIMolecular ChaperonesBCS1Lenergy metabolismGRACILE syndromehepatopathymitochondrial diseaserAAV gene therapyrespiratory complex III deficiencytissue crosstalk

Identifiers

PMID42035262
PMCPMC13464136

What OpenQuestion holds

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Registered trials

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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.