Evidence map›Paper›PMID 41158987›Full record

ArticleMolecular therapy. Nucleic acids2025

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

Imke M E Schuurmans, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Gijs-Jan Scholten, Sara B van Katwijk, Astrid Oudakker, Hilal H Al-Shekaili, Dirk J Lefeber and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy. Nucleic acids, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
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  5. 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

14 authors.

Imke M E SchuurmansRadboud University Medical Center, Amalia Children's Hospital, Department of Pediatrics, 6500 HB Nijmegen, the Netherlands.
Udo EngelkeRadboud University Medical Center, Translational Metabolic Laboratory, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Muna AbedrabboCentre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
Sofía PuvogelRadboud University Medical Center, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Rachel MijdamRadboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, 6500 HB Nijmegen, the Netherlands.
Gijs-Jan ScholtenRadboud University Medical Center, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Sara B van KatwijkRadboud University Medical Center, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Astrid OudakkerRadboud University Medical Center, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Hilal H Al-ShekailiDepartment of Biology, College of Science, Sultan Qaboos University, Muscat H5R9+V35, Oman.
Dirk J LefeberRadboud University Medical Center, Translational Metabolic Laboratory, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Blair R LeavittCentre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
Clara D M van KarnebeekEmma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, 1100 AZ Amsterdam, the Netherlands.
Nael Nadif KasriRadboud University Medical Center, Department of Human Genetics, 6500 HB Nijmegen, the Netherlands.
Alejandro GarantoRadboud University Medical Center, Amalia Children's Hospital, Department of Pediatrics, 6500 HB Nijmegen, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disorder of lysine catabolism caused by bi-allelic variants in

Indexed as

AASSALDH7A1antisense oligonucleotidesastrocyteshuman disease modelinginduced pluripotent stem cellslysine metabolism disordersmetabolic diseasesMT: Oligonucleotides: Therapies and Applications

Identifiers

PMID41158987
PMCPMC12554910

What OpenQuestion holds

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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.