Familial ALS/FTD-associated RNA-Binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation in vitro
Molly Magarotto, Richard T. Gawne, Gabriele Vilkaite, Marcello Beltrami, Andrew S. Mason, Han-Jou Chen
This study shows that RNA-binding deficient TDP-43 mutations in cell models disrupt neuronal differentiation and synaptic pathways, affecting transcriptomic profiles and neurite morphology.
Human Molecular Genetics · Jun 18, 2025Peer-reviewedNeuroscience