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Fig. 1 | Molecular Neurodegeneration

Fig. 1

From: Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD

Fig. 1

Summary of current cellular pathophysiological studies on C9ALS/FTD. a Three hypothesized primary assaults caused by the C9ORF72 mutation: 1) loss of C9ORF72 function, 2) repeat RNA forming either G-quartets or R-loops, toxic secondary structures that either sequester RBPs or cause DNA damage, respectively, and 3) DPRs. b The three primary assaults cause downstream, functional defects in nerve cells, and a combination of these defects causes neurodegeneration. c Therapeutic approaches can target either the primary assaults themselves, or their downstream effectors.

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