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Article

Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.

Journal of neurochemistry - 1 Oct 2008

Dequen Florence, Bomont Pascale, Gowing Geneviève, Cleveland Don W, Julien Jean-Pierre

Abstract excerpt

Mutations in the gigaxonin gene are responsible for giant axonal neuropathy (GAN), a progressive neurodegenerative disorder associated with abnormal accumulations of Intermediate Filaments (IFs). Gigaxonin is the substrate-specific adaptor for a new Cul3-E3-ubiquitin ligase family that promotes t...

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Source

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Identifiers

PMID: 18680552
DOI: 10.1111/j.1471-4159.2008.05601.x
PMCID: PMC3657508

Genes

GAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18680552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.PMID 18680552Read ↗

Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.Semantic proximity Read ↗

Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.Semantic proximity Read ↗

A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization.Semantic proximity Read ↗

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasisSemantic proximity Read ↗

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.Semantic proximity Read ↗

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).Semantic proximity Read ↗

Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.Semantic proximity Read ↗

Neurofilament accumulation disrupts autophagy in giant axonal neuropathySemantic proximity Read ↗

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.Semantic proximity Read ↗

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.Semantic proximity Read ↗

Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteinsSemantic proximity Read ↗

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.Semantic proximity Read ↗

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