Zaepfel et al. show that UPF1 is neuroprotective in the context of C9-ALS. This neuroprotection is observed in multiple in vitro and in vivo models of C9-ALS. UPF1 mitigates toxicity independently of its role in nonsense-mediated decay but is dependent on its known RNA-binding and helicase activity.
- amyotrophic lateral sclerosis
- frontotemporal dementia
- induced pluripotent cells
- nonsense-mediated decay
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)