Summary
PROJECT SUMMARY Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) are devastating neurodegenerative diseases with no cure to date. The most common genetic cause of ALS/FTD is a hexanucleotide GGGGCC (G4C2) repeat expansion mutation in the C9ORF72 gene. The repeat is transcribed in both directions, producing sense G4C2 and antisense CCCCGG (C4G2) transcripts that are translated into six dipeptide repeat (DPR) proteins. The GGGGCC mutation is thought to cause ALS via three non-mutually exclusive mechanisms: a loss- of-function mechanism due to reduced expression of C9ORF7
