Article
DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue.
Cell death and differentiation - 1 Dec 2025
Modafferi Stefania, Farina Stefania, Esposito Francesca, Brandi Ornella, Di Salvio Michela, Della Valle Ilaria, D'Uva Sara, Scarian Eveljn, Cicio Giada, Riccardi Adelaide, Pisati Federica, Garbelli Anna, Santini Tiziana, Pansarasa Orietta, Morlando Mariangela, D'Ambrosi Nadia, Cozzolino Mauro, Cestra Gianluca, d'Adda di Fagagna Fabrizio, Gioia Ubaldo, Francia Sofia
Abstract excerpt
Formation of cytoplasmic inclusions (CIs) of TDP-43 and FUS, along with DNA damage accumulation, is a hallmark of affected motor neurons in Amyotrophic Lateral Sclerosis (ALS). However, the impact of CIs on DNA damage response (DDR) and repair in this pathology remains unprobed. Here, we show that CIs of TDP-43 and FUSP525L, co-localizing with stress granules, lead to a dysfunctional DDR activation associated...
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