Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders

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• 作者：Mathieu Quesnel-Valliè ; res¹ ; ² ; ³ ; Zahra Dargaei⁴ ; Manuel Irimia⁵ ; ⁶ ; Thomas Gonatopoulos-Pournatzis² ; Joanna Y. Ip⁷ ; Mingkun Wu¹ ; ² ; Timothy Sterne-Weiler² ; Shinichi Nakagawa⁷ ; Melanie A. Woodin⁴ ; Benjamin J. Blencowe¹ ; ² ; ⁸ ; ^{b.blencowe@utoronto.ca} ; Sabine P. Cordes¹ ; ³ ; ^{cordes@lunenfeld.ca}
• 关键词：autism spectrum disorder ; alternative splicing ; microexons ; nSR100/SRRM4 ; neuronal activity
• 刊名：Molecular Cell
• 出版年：2016
• 出版时间：15 December 2016
• 年：2016
• 卷：64
• 期：6
• 页码：1023-1034
• 全文大小：2504 K
• 卷排序：64

文摘

Multiple autistic-like features in nSR100/Srrm4 haploinsufficient mice nSR100 mutant mice have altered synaptic transmission and neuronal excitability Neuronal activation induces splicing changes observed in autistic individuals Neuronal activation alters splicing by reducing nSR100 levels