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Article

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

Nature genetics - 1 Nov 2000

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M

Abstract excerpt

Disorganization of the neurofilament network is a prominent feature of several neurodegenerative disorders including amyotrophic lateral sclerosis (ALS), infantile spinal muscular atrophy and axonal Charcot-Marie-Tooth disease. Giant axonal neuropathy (GAN, MIM 256850), a severe, autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by...

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Source

Identifiers

PMID: 11062483
DOI: 10.1038/81701

Genes

GAN
GFAP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.PMID 11062483Read ↗

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.Semantic proximity Read ↗

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

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

Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin.Semantic proximity Read ↗

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

Giant axonal neuropathy.Semantic proximity Read ↗

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The Kelch 3 motif on gigaxonin mediates the interaction with NUDCD3 and regulates vimentin filament morphologySemantic proximity Read ↗

Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.Semantic proximity Read ↗

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.Semantic proximity Read ↗

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