Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
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- 作者：Jie Jiang1 ; 3 ; 17 ; Qiang Zhu1 ; 17 ; Tania F. Gendron4 ; 17 ; Shahram Saberi3 ; Melissa McAlonis-Downes1 ; Amanda Seelman1 ; Jennifer E. Stauffer3 ; Paymaan Jafar-nejad5 ; Kevin Drenner1 ; Derek Schulte3 ; Seung Chun5 ; Shuying Sun1 ; Shuo-Chien Ling1 ; 6 ; Brian Myers1 ; Jeffery Engelhardt5 ; Melanie Katz5 ; Michael Baughn1 ; 2 ; 3 ; Oleksandr Platoshyn7 ; 8 ; Martin Marsala7 ; 8 ; 9 ; Andy Watt5 ; Charles J. Heyser3 ; M. Colin Ard3 ; Louis De Muynck10 ; 11 ; Lillian M. Daughrity4 ; Deborah A. Swing12 ; Lino Tessarollo12 ; Chris J. Jung13 ; Arnaud Delpoux2 ; 14 ; Daniel T. Utzschneider2 ; 14 ; Stephen M. Hedrick2 ; 14 ; Pieter J. de Jong13 ; Dieter Edbauer15 ; Philip Van Damme10 ; 11 ; Leonard Petrucelli4 ; Christopher E. Shaw16 ; C. Frank Bennett5 ; Sandrine Da Cruz1 ; John Ravits3 ; Frank Rigo5 ; Don W. Cleveland1 ; 2 ; 3 ; dcleveland@ucsd.edu" class="auth_mail" title="E-mail the corresponding author ; Clotilde Lagier-Tourenne1 ; 3 ; 18 ; clagier-tourenne@mgh.harvard.edu" class="auth_mail" title="E-mail the corresponding author
- 刊名：Neuron
- 出版年：2016
- 出版时间：4 May 2016
- 年：2016
- 卷：90
- 期：3
- 页码：535-550
- 全文大小：3400 K
文摘
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C9ORF72 repeat expansions cause age-, repeat-size-, and expression-dependent toxicity
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Acquired toxicity, not loss of function, is a major contributor to C9orf72 disease
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Absence of C9ORF72 in mice produces splenomegaly and enlarged cervical lymph nodes
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ASO-induced decreases in repeat RNA mitigate C9ORF72-associated phenotypes in vivo