Evidence map›Paper›PMID 38700995›Full record

ArticleeLife2024

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in

Céline Petitgas, Laurent Seugnet, Amina Dulac, Giorgio Matassi, Ali Mteyrek, Rebecca Fima, Marion Strehaiano, Joana Dagorret, Baya Chérif-Zahar, Sandrine Marie and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in eLife, 2024. 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
  3. Article
  4. Comparative Metabolomics Reveals Phosphine-Induced Metabolic Disruptions inInternational journal of molecular sciences · 2025
    Article
  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

12 authors.

Céline PetitgasGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Laurent SeugnetIntegrated Physiology of the Brain Arousal Systems (WAKING), Lyon Neuroscience Research Centre, INSERM/CNRS/UCBL1, Bron, France.ORCID https://orcid.org/0000-0003-1617-5721
Amina DulacGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Giorgio MatassiDipartimento di Scienze Agroalimentari, Ambientali e Animali, University of Udine, Udine, Italy.ORCID https://orcid.org/0000-0003-4923-226X
Ali MteyrekGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Rebecca FimaGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Marion StrehaianoGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Joana DagorretGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Baya Chérif-ZaharGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.
Sandrine MarieLaboratory of Metabolic Diseases, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Irène Ceballos-PicotMetabolomic and Proteomic Biochemistry Laboratory, Necker-Enfants Malades Hospital and Paris Cité University, Paris, France.
Serge BirmanGenes Circuits Rhythms and Neuropathology, Brain Plasticity Unit, CNRS, ESPCI Paris, PSL Research University, Paris, France.ORCID https://orcid.org/0000-0002-4278-454X

Funding

Association Lesch-Nyhan Action Graduate Student FellowshipAssociation Malaury Laboratory fundingCentre National de la Recherche Scientifique Laboratory fundingÉcole Supérieure de Physique et de Chimie Industrielles de la Ville de Paris Laboratory fundingLabex MemoLife Graduate Student Fellowship
6 · The paper itself

Abstract

Adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT) are two structurally related enzymes involved in purine recycling in humans. Inherited mutations that suppress HGPRT activity are associated with Lesch-Nyhan disease (LND), a rare X-linked metabolic and neurological disorder in children, characterized by hyperuricemia, dystonia, and compulsive self-injury. To date, no treatment is available for these neurological defects and no animal model recapitulates all symptoms of LND patients. Here, we studied LND-related mechanisms in the fruit fly. By combining enzymatic assays and phylogenetic analysis, we confirm that no HGPRT activity is expressed in

Indexed as

Drosophila melanogasterLesch-Nyhan SyndromeAnimalsBehavior, AnimalDisease Models, AnimalDrosophila ProteinsHypoxanthine PhosphoribosyltransferaseLocomotionPurinesDrosophila ProteinsHypoxanthine PhosphoribosyltransferasepurinePurinesadenine phosphoribosyltransferase (APRT)adenosine signalingD. melanogasterdopaminergic neuronsgeneticsgenomicshypoxanthine-guanine phosphoribosyltransferase (HGPRT)Lesch–Nyhan diseaseneurosciencepurine salvage pathway

Identifiers

PMID38700995
PMCPMC11068357

What OpenQuestion holds

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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.