The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy

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• 作者：Constantin d&rsquo ; Ydewalle¹ ; Daniel M. Ramos² ; Noah J. Pyles¹ ; Shi-Yan Ng³ ; ⁴ ; ⁷ ; Mariusz Gorz¹ ; Celeste M. Pilato¹ ; Karen Ling⁵ ; Lingling Kong¹ ; Amanda J. Ward⁶ ; Lee L. Rubin³ ; ⁴ ; Frank Rigo⁵ ; C. Frank Bennett⁵ ; Charlotte J. Sumner¹ ; ² ; ⁸ ; ^{csumner1@jhmi.edu}
• 关键词：spinal muscular atrophy ; SMN ; long non-coding RNA ; antisense oligonucleotides ; SMA therapeutics
• 刊名：Neuron
• 出版年：2017
• 出版时间：4 January 2017
• 年：2017
• 卷：93
• 期：1
• 页码：66-79
• 全文大小：4162 K
• 卷排序：93

文摘

SMN-AS1 is the first long non-coding RNA identified that is associated with SMN SMN-AS1 recruits PRC2 to the SMN2 promoter, repressing its transcription in neurons SMN-AS1 knockdown increases SMN expression in vitro and in vivo Combining SMN-AS1 ASOs with SMN2 splicing ASO attenuates disease in SMA mice.