Article
Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes.
Science (New York, N.Y.) - 5 Feb 2026
Jiang Xin, Schaeffer Laure, Patni Divya, Russo Tommaso, Lee Chao-Zong, Aguilar Corey, Marques Christine, Jansen-West Karen, Hruska-Plochan Marian, Ray-Soni Ananya, Lim Su Min, Held Aaron, Yue Mei, Castellanos Otero Paula, Aryal Sandeep, Beaussant Hortense D A M, Basu Himanish, Takakuwa Hiro, Daughrity Lillian M, Ramesh Nandini, Da Costa Paulo, A A Quadros Ana Rita, Nolan Matthew, Reyes Charles Jourdan F, Wheeler Hayden, Moran Laura C, Griesman Grant, Wymann Benjamin, Trombetta Bianca A, Lopez-De-Silanes Emma Sofia, Canori Michael, Krishnan Gopinath, Vieira Souza Da Silva Yasmim, Eriani Gilbert, Albers Mark W, Arnold Steven E, Song Yuyu, Jain Ankur, Chiu Isaac M, Zhang Yong-Jie, Gao Fen-Biao, Wainger Brian J, Polymenidou Magdalini, Petrucelli Leonard, Martin Franck, Lagier-Tourenne Clotilde
Abstract excerpt
GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Toxicity is thought to result from the accumulation of either repeat RNAs and/or dipeptide repeat proteins (DPRs) translated from repeat-containing transcripts through repeat-associated non-AUG (RAN) translation. To disentangle RNA from DPR toxicity, we mutated a CUG...
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