Article
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
Nature communications - 6 Nov 2019
Bervoets Sven, Wei Na, Erfurth Maria-Luise, Yusein-Myashkova Shazie, Ermanoska Biljana, Mateiu Ligia, Asselbergh Bob, Blocquel David, Kakad Priyanka, Penserga Tyrone, Thomas Florian P, Guergueltcheva Velina, Tournev Ivailo, Godenschwege Tanja, Jordanova Albena, Yang Xiang-Lei
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is a length-dependent peripheral neuropathy. The aminoacyl-tRNA synthetases constitute the largest protein family implicated in CMT. Aminoacyl-tRNA synthetases are predominantly cytoplasmic, but are also present in the nucleus. Here we show that a nuclear function of tyrosyl-tRNA synthetase (TyrRS) is implicated in a Drosophila model of CMT. CMT-causing mutations in TyrRS induce...
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