Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy

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 mo...

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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2009
主題:
Biological Sciences
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2702257/
https://ncbi.nlm.nih.gov/pubmed/19561293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0905339106
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