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A Human Neuronal Cell Model of Endogenous TDP-43 A315T Reveals Altered Protein Dynamics and Disease-Relevant Cellular Dysfunction

M. Cicardi Sara Antonini Ivette Martorell Serra Megan Muench Nikolas G. Kinney A. Girdhar R. Cristofani Angelo Poletti Jared Sterneckert V. Crippa Matteo Bordi P. Pasinelli Marco Tigano Lin Guo D. Trotti
Sep 2026 · bioRxiv · 0 citations · 45 references
Biology

TL;DR

A physiologically relevant human model is established that separates early TDP-43 toxic gain-of-function from basal loss-of-function from basal loss-of-function while providing a robust platform for investigating TDP-43 biology and accelerating therapeutic discovery in ALS.

DOI Semantic Scholar
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