Siobhan E. Toal

Aug 2, 2024 | sciencedirect.com | Reinhard Schweitzer-Stenner |Siobhan E. Toal |Minghao Xie |Tao Zhu

Section snippetsSignificanceThe expansion of G4C2 in the C9orf72 gene is a common genetic factor underlying familial amyotrophic lateral sclerosis and frontotemporal dementia, producing toxic dipeptide repeat proteins, notably polyPR. Despite its known toxicity, the mechanisms by which polyPR disrupts nucleocytoplasmic transport (NCT) remain debated. Our study, building upon recent research, reveals crucial insights.