Ontology highlight
ABSTRACT:
SUBMITTER: Oprescu SN
PROVIDER: S-EPMC5599332 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Oprescu Stephanie N SN Chepa-Lotrea Xenia X Takase Ryuichi R Golas Gretchen G Markello Thomas C TC Adams David R DR Toro Camilo C Gropman Andrea L AL Hou Ya-Ming YM Malicdan May Christine V MCV Gahl William A WA Tifft Cynthia J CJ Antonellis Anthony A
Human mutation 20170714 10
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in myriad dominant and recessive disease phenotypes. Glycyl-tRNA synthetase (GARS) is a bifunctional ARS that charges tRNA<sup>Gly</sup> in the cytoplasm and mitochondria. GARS variants have been associated with dominant Charcot-Marie-Tooth disease but have not been convincingly implicated in recessive phenotypes. Here, we describe a patient f ...[more]