Evidence map›Paper›PMID 41402936›Full record

ArticleActa neuropathologica communications2025

Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.

Caroline Liénard, Nicolas Pradeilles, Elisabeth Cortier, Cedric Hassen-Khodja, Leticia Arias, Maria Ceprian-Costoso, Antoine Picot, Anne-Laure Mausset-Bonnefont, Chantal Cazevieille, Frederic Fiore and 1 more

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In one paragraph

Article in Acta neuropathologica communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

11 authors.

Caroline Liénard *ERC Team, NeuroMyoGene Institute (INMG)-PGNM U1315, UCBL, UMR 5261, University of Lyon, Lyon, France.
Nicolas Pradeilles *ERC Team, NeuroMyoGene Institute (INMG)-PGNM U1315, UCBL, UMR 5261, University of Lyon, Lyon, France.
Elisabeth CortierERC Team, NeuroMyoGene Institute (INMG)-PGNM U1315, UCBL, UMR 5261, University of Lyon, Lyon, France.
Cedric Hassen-KhodjaBioCampus Montpellier Ressources Imagerie, University of Montpellier, CNRS, INSERM, Montpellier, France.
Leticia AriasERC Team, NeuroMyoGene Institute (INMG)-PGNM U1315, UCBL, UMR 5261, University of Lyon, Lyon, France.
Maria Ceprian-CostosoERC Team, NeuroMyoGene Institute (INMG)-PGNM U1315, UCBL, UMR 5261, University of Lyon, Lyon, France.
Antoine PicotInstitut des Neurosciences de Montpellier (INM), INSERM U1298, University of Montpellier, Montpellier, France.
Anne-Laure Mausset-BonnefontIRMB, University of Montpellier, INSERM, Montpellier, France.
Chantal CazevieilleInstitut des Neurosciences de Montpellier (INM), INSERM U1298, University of Montpellier, Montpellier, France.
Frederic FioreCentre d'Immunophénomique (CIPHE), Aix Marseille Université, INSERM, CNRS, CELPHEDIA, PHENOMIN, Marseille, France.
Pascale BomontERC Team, NeuroMyoGene Institute (INMG)-PGNM U1315, UCBL, UMR 5261, University of Lyon, Lyon, France. pascale.bomont@inserm.fr.

Funding

AFM-Téléthon AFM-22225Fondation Maladies Rares FMR - R15041FFInstitut National de la Santé et de la Recherche Médicale ATIP-Avenir
6 · The paper itself

Abstract

The nervous system evolved a variety of connections and neuron types to sustain diverse functions. While challenging, unlocking the universal mechanisms that support neuron integrity can be addressed in giant axonal neuropathy (GAN), a rare and fatal disease with broad deterioration of the nervous system. Here, we describe a new mouse strain that recapitulates key aspects of the GAN pathology following the introduction of a disease-causing mutation in GAN. Unlike previous GAN knock-out mice which show no overt phenotype, GAN

Indexed as

Cytoskeletal ProteinsGiant Axonal NeuropathyMuscle ProteinsMutationUbiquitin-Protein LigasesAnimalsAxonsDisease Models, AnimalFemaleMaleMiceMice, Inbred C57BLNeuromuscular JunctionCytoskeletal ProteinsMuscle ProteinsUbiquitin-Protein LigasesGiant axonal neuropathyGigaxonin-E3 ligaseMouse modelNeurodegenerative diseaseNeurofilamentNeuromuscular junctions

Identifiers

PMID41402936
PMCPMC12822285

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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.