Article
ALS Mutations Shift the Isoelectric Point of the KIF5A C Terminal Inducing Protein Aggregation and TDP-43 Mislocalization.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 30 Jul 2025
Zanella Pietro, Loss Isabel, Parlato Rosanna, Weishaupt Jochen H, Sala Carlo, Verpelli Chiara, Boeckers Tobias M, Catanese Alberto
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by death of lower and upper motor neurons. Although the mechanism behind the selective neuron loss is still unclear, several heterogeneous genes have been causally linked to ALS. KIF5A encodes for a neuronally enriched kinesin involved in protein transport, and mutations within this gene have been causally linked to...
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