Shuying Sun

Sep 11, 2023 | nature.com | Blake Nelson |Nathan Livingston |Timothy J. Stasevich |Michael Bassik |Shuying Sun

AbstractC9ORF72 hexanucleotide repeat expansion is the most common genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic mechanism is the accumulation of toxic dipeptide repeat (DPR) proteins like poly-GA, GP and GR, produced by the noncanonical translation of the expanded RNA repeats. However, how different DPRs are synthesized remains elusive.