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

Abstract Background Motor neurons (MNs), which are primarily affected in amyotrophic lateral sclerosis (ALS), are a specialized type of neurons that are long and non-dividing. Given their unique structure, these cells heavily rely on transport of organelles along their axons and the process of autop...

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Main Authors: 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
Format: Artigo
Language:Inglês
Published: BMC 2023-09-01
Series:Acta Neuropathologica Communications
Subjects:
Amyotrophic lateral sclerosis
Autophagy
C9orf72
Endosome
Human iPSC-derived spinal motor neurons
Lysosome
Online Access:https://doi.org/10.1186/s40478-023-01648-0
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