C9ORF72 dipeptide repeat proteins disrupt formation of GEM bodies and induce aberrant accumulation of survival of motor neuron protein
Yuma Kato, Minnie Yokogawa, Ikuma Nakagawa, Kazunari Onodera, Hideyuki Okano, Haruhisa Inoue, Mitsuharu Hattori, Yohei Okada, Hitomi Tsuiji
This study shows that dipeptide repeat proteins from C9ORF72 mutations disrupt GEM body formation and cause SMN protein mislocalization in motor neurons.
bioRxiv · Mar 24, 2021 · PreprintNeuroscience