Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 the proteasome dependent degradation of its partners MAP1B, MAP8 and tubulin cofactor B. Here, we report the generation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Axons
Share to Embryonic Stem Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ganglia, Spinal

Share to Inclusion Bodies

Share to Intermediate Filament Proteins

Share to Motor Neurons

Share to Muscular Atrophy

Share to Peripheral Nervous System Diseases

Source

Open in PubMed Open full text

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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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 ↗

⌁Select a neighboring publication to make it the new centre.