Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Zhu, Q; Jiang, J; Gendron, TF; McAlonis-Downes, M; Jiang, LL; Taylor, A; Garcia, SD; Dastidar, SG; Rodriguez, MJ; King, P; Zhang, YJ; La Spada, AR; Xu, HX; Petrucelli, L; Ravits, J; Da Cruz, S; Lagier-Tourenne, C; Cleveland, DW

Cleveland, DW (corresponding author), Univ Calif San Diego, Ludwig Inst Canc Res, La Jolla, CA 92093 USA.; Cleveland, DW (corresponding author), Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA.; Lagier-Tourenne, C (corresponding author), Harvard Med Sch, Dept Neurol, Sean M Healey & AMG Ctr ALS Mass Gen, Massachusetts Gen Hosp, Boston, MA 02115 USA.; Lagier-Tourenne, C (corresponding author), Broad Inst Harvard Univ & MIT, Cambridge, MA 02115 USA.; Cleveland, DW (corresponding author), Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA.

NATURE NEUROSCIENCE, 2020; 23 (5): 615

Abstract

Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange factor, are the most frequent genetic cause of amyotrophic lateral sc......

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