Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice [RESEARCH ARTICLE]

In conclusion, expression of 36x pure G4C2 repeats including 100-bp human flanking regions is sufficient for RAN translation of sense DPRs, and evokes a functional locomotor phenotype. Our inducible mouse model suggests that early diagnosis and treatment are important for C9FTD/ALS patients. This article has an associated First Person interview with the first author of the paper.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Neurodegenerative disorders, Neuromuscular RESEARCH ARTICLE Source Type: research