作者
J Gavin Daigle, Nicholas A Lanson Jr, Rebecca B Smith, Ian Casci, Astha Maltare, John Monaghan, Charles D Nichols, Dmitri Kryndushkin, Frank Shewmaker, Udai Bhan Pandey
发表日期
2013/3/15
期刊
Human molecular genetics
卷号
22
期号
6
页码范围
1193-1205
出版商
Oxford University Press
简介
Amyotrophic lateral sclerosis (ALS) is an uncommon neurodegenerative disease caused by degeneration of upper and lower motor neurons. Several genes, including SOD1, TDP-43, FUS, Ubiquilin 2, C9orf72 and Profilin 1, have been linked with the sporadic and familiar forms of ALS. FUS is a DNA/RNA-binding protein (RBP) that forms cytoplasmic inclusions in ALS and frontotemporal lobular degeneration (FTLD) patients' brains and spinal cords. However, it is unknown whether the RNA-binding ability of FUS is required for causing ALS pathogenesis. Here, we exploited a Drosophila model of ALS and neuronal cell lines to elucidate the role of the RNA-binding ability of FUS in regulating FUS-mediated toxicity, cytoplasmic mislocalization and incorporation into stress granules (SGs). To determine the role of the RNA-binding ability of FUS in ALS, we mutated FUS RNA-binding sites (F305L, F341L, F359L …
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JG Daigle, NA Lanson Jr, RB Smith, I Casci, A Maltare… - Human molecular genetics, 2013