A toxic gain-of-function mechanism in C9orf72 ALS impairs the autophagy-lysosome pathway in neurons.

Jimmy Beckers Arun Kumar Tharkeshwar Laura Fumagalli Matilde Contardo Evelien Van Schoor Raheem Fazal Dietmar Rudolf Thal Siddharthan Chandran Renzo Mancuso Ludo Van Den Bosch Philip Van Damme

Published in: Acta neuropathologica communications (2023)

Our data provides further insight into the involvement of defects in the autophagy-lysosome pathway in C9orf72-ALS and strongly indicate that those defects are mainly due to the toxic gain-of-function mechanisms underlying C9orf72-ALS.

Keyphrases

amyotrophic lateral sclerosis
cell death
endoplasmic reticulum stress
signaling pathway
fluorescent probe
oxidative stress
living cells
electronic health record
big data
machine learning
spinal cord injury
data analysis
deep learning