Evidence map›Paper›PMID 40836090›Full record

ArticleNature2025

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Jean Jacobs, Hristiana Lyubenova, Sven Potelle, Johannes Kopp, Isabelle Gerin, Wing Lee Chan, Miguel Rodriguez de Los Santos, Wiebke Hülsemann, Martin A Mensah, Valérie Cormier-Daire and 14 more

Abstract read
In one paragraph

Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Atomically Precise Clusterzymes: A Programmable Optoelectronic Platform for Neuroscience.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Review
  4. 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

24 authors.

Jean Jacobs *de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.ORCID 0009-0006-9723-6029
Hristiana Lyubenova *Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-5590-3835
Sven Potellede Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.ORCID 0000-0002-7044-688X
Johannes KoppInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-0391-1497
Isabelle Gerinde Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.ORCID 0009-0000-0331-8207
Wing Lee ChanJulius Wolff Institute of Biomechanics and Musculoskeletal Regeneration, Charité Universitätsmedizin Berlin, Berlin, Germany.ORCID 0000-0002-7605-1571
Miguel Rodriguez de Los SantosInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-2126-7658
Wiebke HülsemannHand Surgery Department, Children's Hospital Wilhelmstift, Hamburg, Germany.
Martin A MensahInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Valérie Cormier-DaireParis Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR1163, Necker Enfants Malades Hospital, Imagine Institute, Paris, France.ORCID 0000-0002-2839-9856
Marieke JoostenDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-4443-4690
Hennie T BruggenwirthDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0003-4303-8896
Kyra E StuurmanDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Valancy MirandaDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.ORCID 0000-0002-6344-1968
Philippe M CampeauDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.ORCID 0000-0001-9713-7107
Lars WittlerMax Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0001-7873-6702
Julie Graffde Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.ORCID 0009-0001-9951-8509
Stefan MundlosInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Daniel M IbrahimMax Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0002-0019-3354
Emile Van Schaftingende Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.ORCID 0000-0002-6199-7647
Björn Fischer-ZirnsakInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-1075-7571
Uwe KornakInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.ORCID 0000-0002-4582-9838
Nadja EhmkeInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. nadja.ehmke@charite.de.ORCID 0000-0003-1449-9909
Guido T Bommerde Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium. guido.bommer@uclouvain.be.ORCID 0000-0001-6898-4884

Funding

European Research Council
6 · The paper itself

Abstract

Living cells depend on an intricate network of chemical reactions catalysed by enzymes, which sometimes make mistakes that lead to their inactivation. Here we report a metabolite-based mechanism for preserving enzyme function in an unfavourable environment. We found that the enzyme TGDS produces UDP-4-keto-6-deoxyglucose, a mimic of the reaction intermediate of the enzyme UXS1, which regenerates the essential cofactor NAD

Indexed as

OsteochondrodysplasiasAnimalsBiocatalysisExostoses, Multiple HereditaryFemaleHumansMaleMiceModels, MolecularNADNAD

Identifiers

PMID40836090
PMCPMC12488480

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.