Article
Glycosylation of gigaxonin regulates intermediate filaments: Novel molecular insights into giant axonal neuropathy
2019-01-26
Abstract excerpt
Gigaxonin (also known as KLHL16) is an E3 ligase adaptor protein that promotes the ubiquitination and degradation of intermediate filament (IF) proteins. Mutations in human gigaxonin cause the fatal neurodegenerative disease giant axonal neuropathy (GAN), in which IF proteins accumulate and aggregate in axons throughout the nervous system, impairing neuronal function and viability. Despite this pathophysiological...
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Identifiers and source
- Literature Corpus work
- 94d95125-6d2f-5617-bce9-79ceefe0c135
- DOI
- 10.1101/530303
