Alternative RNA Splicing
Lethal Alleles
Mutations
Mutations
Amyloid Fibrils
RNA Splicing
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Updated: Jun 12, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
J Robertson1, J Bilbao, L Zinman
1University of Toronto, Department of Medicine, Centre for Research in Neurodegenerative Diseases, Toronto, ON, Canada.
Novel FUS gene mutations, R514S/E516V, are linked to amyotrophic lateral sclerosis (ALS). This study identifies a new mutation hotspot in FUS, potentially impacting protein function and disease development.
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