Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann-Josef Lüdecke, Margarete Koch-Hogrebe, Hessa S Alsaif, Kimia Kahrizi, Hamad Alzaidan, Bashayer S Alawam, Mohamed Tohary, Cornelia Kraus, Sabine Endele, Erin Wadman, Julie D Kaplan, Stephanie Efthymiou, Hossein Najmabadi, André Reis, Fowzan S Alkuraya, Dagmar Wieczorek
Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains (N-Terminal TyrRSMini and C-terminal EMAP-II-like domain) which confer cytokine-like functions. Mutations in YARS1 have been associated with autosomal-dominant Charcot-Marie-Tooth (CMT) neuropathy type C and a heterogenous group of autosomal recessive, multisystem diseases...
September 18, 2021: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"