Article

Neurofilament accumulation disrupts autophagy in giant axonal neuropathy

2024-03-31

Abstract excerpt

<h4>ABSTRACT</h4> Neurofilament accumulation is a marker of several neurodegenerative diseases, but it is the primary pathology in Giant Axonal Neuropathy (GAN). This childhood onset autosomal recessive disease is caused by loss-of-function mutations in gigaxonin, the E3 adaptor protein that is essential for neurofilament degradation. Using a combination of genetic and RNA interference (RNAi) approaches, we found...

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Literature Corpus work: 57e8f1ee-0785-5211-b578-e9e7cacc01fb
DOI: 10.1101/2024.03.29.587353

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