Article
C9orf72-ALS mutation drives mitophagy impairments in iNeurons
2025-03-06
Abstract excerpt
<h4>Introduction</h4> ALS is a neurodegenerative disorder characterised by progressive upper and lower motor neuron loss. A GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene is the most common mutation found in populations of European descent. Mitochondrial dysfunction has been observed in C9orf72-ALS patients and models of the disease, however reports on mitochondrial clearance via mitophagy in C9...
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Identifiers and source
- Literature Corpus work
- 84fddcca-aa83-536b-ae5e-f51fb020a6bf
- DOI
- 10.1101/2025.02.28.640849
