Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

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• 作者：Stephanie N. Oprescu^a ; Laurie B. Griffin^b ; ^c ; Asim A. Beg^d ; Anthony Antonellis^a ; ^b ; ^{antonell@umich.edu}
• 关键词：Aminoacyl-tRNA synthetases ; Mendelian disease ; Charcot-Marie-Tooth (CMT) disease ; Peripheral neuropathy ; Neurodevelopmental disease ; Functional evaluation of disease-associated mutations
• 刊名：Methods
• 出版年：2017
• 出版时间：15 January 2017
• 年：2017
• 卷：113
• 期：Complete
• 页码：139-151
• 全文大小：1543 K
• 卷排序：113

文摘

Aminoacyl-tRNA synthetases (ARSs) are essential and ligate tRNA to amino acids. Genes encoding ARSs are associated with a spectrum of human inherited diseases. Implicating an ARS allele in genetic disease requires strong genetic evidence. Most ARS mutations implicated in human disease cause impaired enzyme function. Functional studies should be cautiously employed to assess ARS mutations.