ArticleRare diseases (Austin, Tex.)2013
Explaining intermediate filament accumulation in giant axonal neuropathy.
Article in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteins.bioRxiv : the preprint server for biology · 2024Article
- Gigaxonin is required for intermediate filament transport.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders.Molecular neurodegeneration · 2019Review
- The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.Molecular biology of the cell · 2016Article
- Neurofilament depletion improves microtubule dynamics via modulation of Stat3/stathmin signaling.Acta neuropathologica · 2016Article
- Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.F1000Research · 2014Article
- Pili canaliculi as manifestation of giant axonal neuropathy.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Giant axonal neuropathy (GAN)(1) is a rare autosomal recessive neurological disorder caused by mutations in the GAN gene that encodes gigaxonin, a member of the BTB/Kelch family of E3 ligase adaptor proteins.(1) This disease is characterized by the aggregation of Intermediate Filaments (IF)-cytoskeletal elements that play important roles in cell physiology including the regulation of cell shape, motility, mechanics and intra-cellular signaling. Although a range of cell types are affected in GAN, neurons display the most severe pathology, with neuronal intermediate filament accumulation and aggregation; this in turn causes axonal swellings or "giant axons." A mechanistic understanding of GAN IF pathology has eluded researchers for many years. In a recent study(1) we demonstrate that the normal function of gigaxonin is to regulate the degradation of IF proteins via the proteasome. Our findings present the first direct link between GAN mutations and IF pathology; moreover, given the importance of IF aggregations in a wide range of disease conditions, our findings could have wider ramifications.
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