Evidence map›Paper›PMID 34948281›Full record

ArticleInternational journal of molecular sciences2021

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L Valverde, Judith Armstrong-Moron, Maria Del Carmen Fons-Estupiña, Liesbeth T Wintjes, Antonia Kappen, Richard J Rodenburg and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 28% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. [Advances in the molecular genetics of nuclear gene mutations causing pediatric mitochondrial cardiomyopathy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Pooled it
  2. Mitochondrial DNA depletion syndrome and its cardiac complication.Frontiers in cardiovascular medicine · 2025
    Review
  3. Review
  4. Article
  5. Review
  6. Review
  7. Article
  8. Mitochondrial Bioenergetics in Different Pathophysiological Conditions 2.0.International journal of molecular sciences · 2022
    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

11 authors at 4 institutions in 2 countries.

Sofia Barbosa-GouveiaUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-1431-4644
Maria E Vázquez-MosqueraUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-3167-5919
Emiliano Gonzalez-VioqueClinical Biochemistry Service, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain.
Álvaro Hermida-AmeijeirasUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-3757-262X
Laura L ValverdeUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-2504-6008
Judith Armstrong-MoronClinical Genetics, Molecular and Genetic Medicine Section, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.ORCID 0000-0003-0588-9307
Maria Del Carmen Fons-EstupiñaCIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.
Liesbeth T WintjesTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-7988-1984
Antonia KappenTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-3115-8882
Richard J RodenburgDepartment of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5227-3527
Maria L CouceUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-4861-9905
Universidade de Santiago de Compostela · ESRadboud University Nijmegen · NLHospital Sant Joan de Déu Barcelona · ESHospital Universitario Puerta de Hierro Majadahonda · ES

Funding

Health Research Institute of Santiago (IDIS) PhD grant from Pre-Doctoral scholarship
6 · The paper itself

Abstract

Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease.

Indexed as

CardiomyopathiesCataractFibroblastsHumansInfant, NewbornMitochondriaMitochondrial MembranesMitochondrial Membrane Transport ProteinsMutationOxidative PhosphorylationPhosphotransferases (Alcohol Group Acceptor)Protein TransportRNA Splicingacylglycerol kinaseAGK protein, humanMitochondrial Membrane Transport ProteinsPhosphotransferases (Alcohol Group Acceptor)acylglycerol kinasemitochondrial ATP generationmitochondrial dysfunctionoxidative phosphorylation machinerySengers syndrome

Identifiers

PMID34948281
PMCPMC8708263
OpenAlexW4200282947

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.