Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene

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• 作者：Xinmei Wen ; ^{Xinmei.Wen@jefferson.edu} ; ^{Xinmei.Wen@icloud.com} ; Thomas Westergard ; Piera Pasinelli ; Davide Trotti
• 关键词：C9orf72 ; ALS ; FTD ; Repeat expansion disease ; RNA foci ; Dipeptide repeat protein
• 刊名：Neuroscience Letters
• 出版年：2017
• 出版时间：1 January 2017
• 年：2017
• 卷：636
• 期：Complete
• 页码：16-26
• 全文大小：2956 K
• 卷排序：636

文摘

Three potential disease mechanisms of C9orf72 linked ALS/FTD are reviewed. Findings arguing against each proposed mechanism are discussed. All three mechanisms are likely involved in disease pathogenesis.