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Article

Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.

The Journal of clinical investigation - 1 May 2013

Mahammad Saleemulla, Murthy S N Prasanna, Didonna Alessandro, Grin Boris, Israeli Eitan, Perrot Rodolphe, Bomont Pascale, Julien Jean-Pierre, Kuczmarski Edward, Opal Puneet, Goldman Robert D

Abstract excerpt

Giant axonal neuropathy (GAN) is an early-onset neurological disorder caused by mutations in the GAN gene (encoding for gigaxonin), which is predicted to be an E3 ligase adaptor. In GAN, aggregates of intermediate filaments (IFs) represent the main pathological feature detected in neurons and other cell types, including patients' dermal fibroblasts. The molecular mechanism by which these mutations cause IFs to...

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Identifiers

PMID: 23585478
DOI: 10.1172/JCI66387
PMCID: PMC3635735

Genes

GAN

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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.

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Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.PMID 23585478Read ↗

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