Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Histidyl-tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcot Marie-Tooth disease type 2W (CMT2W); however, the precise molecular mechanism remains undefined. Here, we...

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書誌詳細
出版年:Hum Mutat
主要な著者: Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher
フォーマット: Artigo
言語:Inglês
出版事項: 2017
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983030/
https://ncbi.nlm.nih.gov/pubmed/29235198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23380
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