關於「tRNA synthetase disease」標籤，搜尋引擎有相關的訊息討論：

Aminoacyl-tRNA synthetase deficiencies in search of common themes。

2018年6月6日 · Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease.。

Aminoacyl-tRNA synthetases in medicine and disease - NCBI。

2013年2月21日 · In 2003, the first human disease-related genetic mutation in an ARS was reported in GARS (glycyl-tRNA synthetase) (Antonellis et al, 2003).。

Human aminoacyl-tRNA synthetases in diseases of the nervous ...。

KEYWORDS: Aminoacyl-tRNA synthetase, encephalopathy, mutation, neurodegenerative disease, neuropathy, ponto-cerebellar hypoplasia, tRNA.： tw | tw。

Aminoacyl tRNA synthetases and their connections to disease | PNAS。

2008年8月12日 · Surprisingly, the etiology of specific diseases—including cancer, neuronal pathologies, autoimmune disorders, and disrupted metabolic conditions ...： tw | tw。

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

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

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

2021年8月17日 · A subtype of this disease, CMT type 2D (CMT2D), is caused by dominant mutations in the gene encoding glycyl-tRNA synthetase (GARS).。

The regulatory roles of aminoacyl-tRNA synthetase in ... - Cell Press。

2021年6月23日 · Aminoacyl-tRNA synthetases (ARSs) are widely found in organisms, ... be closely associated with a variety of cardiovascular diseases (CVDs), ...。

Dominant Intermediate Charcot-Marie-Tooth Disorder Is Not Due to ...。

2011年7月6日 · To test the hypothesis that DI-CMTC is due to a defect in the ability of tyrosyl-tRNA synthetase to catalyze the aminoacylation of tRNATyr, ...。

A new mutation in the gene encoding mitochondrial seryl-tRNA ...。

2013年9月13日 · D390G) in SARS2, encoding the mitochondrial seryl-tRNA synthetase. ... R402H mutation in SARS2 is a new cause of HUPRA syndrome.。

Antisynthetase syndrome - European Journal of Radiology。

2016年5月23日 · Antisynthetase syndrome: Pulmonary computed tomography findings of adult patients with antibodies to aminoacyl-tRNA synthetases. Yuko Waseda.