Article
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.
Nature communications - 3 Jul 2015
Niehues Sven, Bussmann Julia, Steffes Georg, Erdmann Ines, Köhrer Caroline, Sun Litao, Wagner Marina, Schäfer Kerstin, Wang Guangxia, Koerdt Sophia N, Stum Morgane, Jaiswal Sumit, RajBhandary Uttam L, Thomas Ulrich, Aberle Hermann, Burgess Robert W, Yang Xiang-Lei, Dieterich Daniela, Storkebaum Erik
Abstract excerpt
Dominant mutations in five tRNA synthetases cause Charcot-Marie-Tooth (CMT) neuropathy, suggesting that altered aminoacylation function underlies the disease. However, previous studies showed that loss of aminoacylation activity is not required to cause CMT. Here we present a Drosophila model for CMT with mutations in glycyl-tRNA synthetase (GARS). Expression of three CMT-mutant GARS proteins induces defects in...
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