Article
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Stem cell reports - 13 Feb 2024
Shum Carole, Hedges Erin C, Allison Joseph, Lee Youn-Bok, Arias Natalia, Cocks Graham, Chandran Siddharthan, Ruepp Marc-David, Shaw Christopher E, Nishimura Agnes L
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset neurodegenerative disorder characterized by progressive muscular weakness due to the selective loss of motor neurons. Mutations in the gene Fused in Sarcoma (FUS) were identified as one cause of ALS. Here, we report that mutations in FUS lead to upregulation of synaptic proteins, increasing synaptic activity and abnormal release of vesicles at the...
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