Article
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
Proceedings of the National Academy of Sciences of the United States of America - 14 Jul 2009
Storkebaum Erik, Leitão-Gonçalves Ricardo, Godenschwege Tanja, Nangle Leslie, Mejia Monica, Bosmans Inge, Ooms Tinne, Jacobs An, Van Dijck Patrick, Yang Xiang-Lei, Schimmel Paul, Norga Koen, Timmerman Vincent, Callaerts Patrick, Jordanova Albena
Abstract excerpt
Dominant-intermediate Charcot-Marie-Tooth neuropathy (DI-CMT) is characterized by axonal degeneration and demyelination of peripheral motor and sensory neurons. Three dominant mutations in the YARS gene, encoding tyrosyl-tRNA synthetase (TyrRS), have so far been associated with DI-CMT type C. The molecular mechanisms through which mutations in YARS lead to peripheral neuropathy are currently unknown, and animal...
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