Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis
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- 作者：Yulei Shanga ; Eric J. Huanga ; b ; eric.huang2@ucsf.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：RNA binding protein ; Fused in sarcoma (FUS) ; Prion-like property ; Low complexity domain ; DNA damage repair ; RNA splicing ; Amyotrophic lateral sclerosis (ALS) ; Frontotemporal dementia (FTD)
- 刊名：Brain Research
- 出版年：2016
- 出版时间：15 September 2016
- 年：2016
- 卷：1647
- 期：Complete
- 页码：65-78
- 全文大小：1748 K
文摘
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RNA/DNA binding protein FUS (fused in sarcoma) regulates RNA homeostasis and DNA damage repair.
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Prion-like or low complexity domain in FUS regulates liquid to solid phase transition.
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FALS-related mutations in FUS cause dendritic and synaptic defects in model organisms.
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FUS mutations affect RNA splicing and DNA damage response/repair via a dominant negative mechanism.