ALS Compendium

Title: RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

Year Published: 2013

Observation: Approximately 35% of cells contained intranuclear GGGGCC repeat RNA foci. ADARB2 interacts with GGGGCC RNA. C9ORF72 iPSCs neurons are highly succeptible to glutamate excitoxicity. ANtisense oligonucleotides rescue RNA toxicity observed in C9ORF72 iPSC neurons

Comment: Data indicate a toxic RNA gain-of-function mechanism as a cause of C9ORF72 ALS and provide candidate antisense therapeutics for therapy

Citation: Donnelly, C. J., Zhang, P.-W., Pham, J. T., Heusler, A. R., Mistry, N. a, Vidensky, S., … Rothstein, J. D. (2013). RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron, 80(2), 415–28. doi:10.1016/j.neuron.2013.10.015

Back to Homepage