Article
Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.
PloS one - 1 Jan 2014
Lorenzo-Betancor Oswaldo, Ogaki Kotaro, Soto-Ortolaza Alexandra, Labbé Catherine, Vilariño-Güell Carles, Rajput Alex, Rajput Ali H, Pastor Pau, Ortega Sara, Lorenzo Elena, Strongosky Audrey J, van Gerpen Jay A, Uitti Ryan J, Wszolek Zbigniew K, Ross Owen A
Abstract excerpt
BACKGROUND AND OBJECTIVE: Genes encoding RNA-binding proteins, including FUS and TDP43, play a central role in different neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Recently, a mutation located in the nuclear export signal (NES) of the FUS gene has been reported to cause an autosomal dominant form of familial Essential tremor. MATERIAL AND METHODS: We...
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