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- W2011948905 abstract "Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for the first step of protein translation--attaching amino acids to cognate tRNA molecules. Interestingly, ARS gene mutations have been implicated in tissue-specific human diseases, including inherited peripheral neuropathies. To date, five loci encoding an ARS have been implicated in peripheral neuropathy, and alleles at each locus show loss-of-function characteristics. The majority of the phenotypes are autosomal dominant, and each of the implicated enzymes acts as an oligomer, indicating that a dominant-negative effect should be considered. On the basis of current data, impaired tRNA charging is likely to be a central component of ARS-related neuropathy. Future efforts should focus on testing this notion and developing strategies for restoring ARS function in the peripheral nerve." @default.
- W2011948905 created "2016-06-24" @default.
- W2011948905 creator A5067323000 @default.
- W2011948905 creator A5072499547 @default.
- W2011948905 date "2013-06-01" @default.
- W2011948905 modified "2023-10-16" @default.
- W2011948905 title "To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations" @default.
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- W2011948905 doi "https://doi.org/10.1016/j.gde.2013.02.002" @default.
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