A mouse model with widespread expression of the C9orf72-linked glycine–arginine dipeptide displays non-lethal ALS/FTD-like phenotypes
Translation of the hexanucleotide G4C2 expansion associated with C9orf72 amyotrophic
lateral sclerosis and frontotemporal dementia (ALS/FTD) produces five different dipeptide
repeat protein (DPR) species that can confer toxicity. There is yet much to learn about the
contribution of a single DPR to disease pathogenesis. We show here that a short repeat
length is sufficient for the DPR poly-GR to confer neurotoxicity in vitro, a phenomenon
previously unobserved. This toxicity is also reported in vivo in our novel knock-in mouse …
lateral sclerosis and frontotemporal dementia (ALS/FTD) produces five different dipeptide
repeat protein (DPR) species that can confer toxicity. There is yet much to learn about the
contribution of a single DPR to disease pathogenesis. We show here that a short repeat
length is sufficient for the DPR poly-GR to confer neurotoxicity in vitro, a phenomenon
previously unobserved. This toxicity is also reported in vivo in our novel knock-in mouse …