Article
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Science advances - 1 Jul 2021
Birsa Nicol, Ule Agnieszka M, Garone Maria Giovanna, Tsang Brian, Mattedi Francesca, Chong P Andrew, Humphrey Jack, Jarvis Seth, Pisiren Melis, Wilkins Oscar G, Nosella Micheal L, Devoy Anny, Bodo Cristian, de la Fuente Rafaela Fernandez, Fisher Elizabeth M C, Rosa Alessandro, Viero Gabriella, Forman-Kay Julie D, Schiavo Giampietro, Fratta Pietro
Abstract excerpt
FUsed in Sarcoma (FUS) is a multifunctional RNA binding protein (RBP). FUS mutations lead to its cytoplasmic mislocalization and cause the neurodegenerative disease amyotrophic lateral sclerosis (ALS). Here, we use mouse and human models with endogenous ALS-associated mutations to study the early consequences of increased cytoplasmic FUS. We show that in axons, mutant FUS condensates sequester and promote the...
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