關於「mutation in aminoacyl-trna synthetase」標籤，搜尋引擎有相關的訊息討論：

Disease-associated mutations in a bifunctional aminoacyl-tRNA ...。

13 小時前 · The human EPRS gene encodes a bifunctional glutamyl-prolyl-tRNA synthetase (EPRS) with two catalytic cores and appended domains that contribute ...。

Aminoacyl-tRNA synthetase deficiencies in search of common themes。

2018年6月6日 · The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.PLoS One. 2011;6:e29393. CAS PubMed ...。

Charcot–Marie–Tooth mutation in glycyl-tRNA synthetase stalls ...。

2021年8月17日 · Toxic gain-of-function mutations in aminoacyl-tRNA synthetases cause a ... Reporter plasmids RL and FL have been described previously (23).。

Aminoacyl-tRNA synthetases in medicine and disease - NCBI。

2013年2月21日 · The ongoing discovery of genetic mutations in human ARSs is increasing exponentially and can be considered an important determinant of disease ...。

Aminoacyl tRNA synthetases and their connections to disease | PNAS。

2008年8月12日 · Because some disease-causing mutations do not affect aminoacylation activity or apparent enzyme stability, the mutations are believed to affect ...： tw | tw。

Interstice mutations that block site-to-site translocation of a ... - PNAS。

Class I aminoacyl-tRNA synthetases catalyze editing reactions that prevent ambiguity from entering the genetic code. Misactivated amino acids are ...： 。

Full article: Human aminoacyl-tRNA synthetases in diseases of the ...。

CMT was the first neural disorder to be linked to mutations in genes encoding AaRSs. Antonellis and colleagues reported a causative link between the ...。

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses ...。

This suppression of a tRNA gene mutation by increasing the steady-state levels of its cognate aminoacyl-tRNA synthetase is a model for potential therapies ...。

Alanyl-tRNA Synthetase Quality Control Prevents Global ...。

2019年12月17日 · These results demonstrate the essential role of aminoacyl-tRNA proofreading ... Interestingly, in vitro characterization of the mutant AlaRS ...。

Genomic analyses of aminoacyl tRNA synthetases from human ...。

2019年5月2日 · Datt M, Sharma A. Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases. BMC Genomics. 2014 ...