Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation

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• 作者：Fen-Biao Gao¹ ; ^{fen-biao.gao@umassmed.edu} ; Joel D. Richter²
• 关键词：ALS ; C9ORF72 ; FMR1 ; frontotemporal dementia ; FXTAS ; microsatellite ; neurodegeneration ; nuclear lamina ; RAN translation ; repeats
• 刊名：Neuron
• 出版年：2017
• 出版时间：18 January 2017
• 年：2017
• 卷：93
• 期：2
• 页码：249-251
• 全文大小：306 K
• 卷排序：93

文摘

Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.