High content live profiling reveals concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis.
Arun Pal, Benedikt Kretner, Masin Abo-Rady, Hannes Glaß, Marcel Naumann, Julia Japtok, Nicole Kreiter, Tobias Maria Böckers, Jared L. Sterneckert, Andreas Hermann
This study shows that C9ORF72 ALS pathogenesis involves both gain and loss of function mechanisms causing axonal organelle trafficking impairment and DNA damage.
bioRxiv · Apr 15, 2020 · PreprintNeuroscience