Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia

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• 作者：Joseph E. Rittiner¹ ; ¹¹ ; Zachary F. Caffall¹ ; ¹¹ ; Ricardo Herná ; ndez-Martinez¹ ; Sydney M. Sanderson¹ ; James L. Pearson³ ; ⁴ ; Kaylin K. Tsukayama¹ ; Anna Y. Liu¹ ; Changrui Xiao¹ ; Samantha Tracy¹ ; Miranda K. Shipman¹ ; Patrick Hickey¹ ; Julia Johnson¹ ; Burton Scott¹ ; Mark Stacy¹ ; Rachel Saunders-Pullman⁶ ; ⁷ ; Susan Bressman⁶ ; ⁷ ; Kristina Simonyan⁷ ; ⁸ ; Nutan Sharma⁹ ; ¹⁰ ; Laurie J. Ozelius⁹ ; ¹⁰ ; Elizabeth T. Cirulli³ ; ⁵ ; Nicole Calakos¹ ; ² ; ¹² ; ^{nicole.calakos@dm.duke.edu}
• 关键词：dystonia ; stress signaling ; regulation of translation
• 刊名：Neuron
• 出版年：2016
• 出版时间：21 December 2016
• 年：2016
• 卷：92
• 期：6
• 页码：1238-1251
• 全文大小：3428 K
• 卷排序：92

文摘

Genome-wide RNAi screen of a novel DYT1 dystonia assay identifies the eIF2α pathway Enhancing eIF2α signaling restores absent corticostriatal LTD in DYT1 knockin mice DYT1 dystonia patient-derived cells have a deficient eIF2α pathway stress response Rare loss-of-function variants in ATF4 are enriched in sporadic dystonia patients