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Article

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

BMC genetics - 1 Mar 2007

Leung Conrad L, Pang Yinghua, Shu Chang, Goryunov Dmitry, Liem Ronald K H

Abstract excerpt

BACKGROUND: Giant axonal neuropathy (GAN) is a hereditary neurological disorder that affects both central and peripheral nerves. The main pathological hallmark of the disease is abnormal accumulations of intermediate filaments (IFs) in giant axons and other cell types. Mutations in the GAN gene, encoding gigaxonin, cause the disease. Gigaxonin is important in controlling protein degradation via the...

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Identifiers

PMID: 17331252
DOI: 10.1186/1471-2156-8-6
PMCID: PMC1810559

Genes

GAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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