ArticleBMC genetics2007
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.
Article in BMC genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Genetic Approaches for the Treatment of Giant Axonal Neuropathy.Journal of personalized medicine · 2022Review
- Calpain-mediated proteolysis of vimentin filaments is augmented in giant axonal neuropathy fibroblasts exposed to hypotonic stress.Frontiers in cell and developmental biology · 2022Article
- Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.The Journal of clinical investigation · 2013Article
- Lipid droplets, perilipins and cytokeratins--unravelled liaisons in epithelium-derived cells.PloS one · 2013Article
- Explaining intermediate filament accumulation in giant axonal neuropathy.Rare diseases (Austin, Tex.) · 2013Article
- Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.Molecular neurodegeneration · 2011Article
- Onset of human cytomegalovirus replication in fibroblasts requires the presence of an intact vimentin cytoskeleton.Journal of virology · 2009Article
- Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.Human molecular genetics · 2009Article
- Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.Journal of neurochemistry · 2008Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundGiant 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 ubiquitin-proteasome system. The goal of this study was to examine global alterations in gene expression in fibroblasts derived from newly identified GAN families compared with normal cells.
resultsWe report the characterization of fibroblast explants obtained from two unrelated GAN patients. We identify three novel putative mutant GAN alleles and show aggregation of vimentin IFs in these fibroblasts. By microarray analysis, we also demonstrate that the expression of lipid metabolism genes of the GAN fibroblasts is disrupted, which may account for the abnormal accumulations of lipid droplets in these cells.
conclusionOur findings suggest that aberrant lipid metabolism in GAN patients may contribute to the progression of the disease.
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