Expanded intronic G4C2 repeats in C9orf72 cause ALS/FTD. GR dipeptide repeats produced in C9orf72 ALS/FTD co-aggregate with Kap2 in neurons, affecting survival. Upregulating Kapβ2 may mitigate neurotoxicity, a potential therapy for C9orf72-ALS/FTD.
- M. E. Cicardi
- V. Kankate
- D. Trotti