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Article

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

Acta neuropathologica communications - 16 Dec 2025

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

Abstract excerpt

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...

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Identifiers

PMID: 41402936
DOI: 10.1186/s40478-025-02138-1
PMCID: PMC12822285

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GAN

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