C9orf72 nucleotide repeat structures initiate molecular cascades of disease (original) (raw)

“…1). Many of the proteins bound by G 4 C 2 repeats are required for normal RNA processing, including nucleolin, ADAR, hnRNP A1, hnRNP H, SC35, and serine/ arginine-rich splicing factor 1 and serine/arginine-rich splicing factor 2 [66,68,119,121,122], suggesting that neuronal toxicity in ALS might arise from a functional depletion of these essential factors. If so, then blocking the repeat domain might prevent downstream toxicity.…”