Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular development and homeostasis

Abstract

Words: 3,024Key Words: aminoacyl-tRNA synthetase (ARS), Charcot-Marie-Tooth disease type 2D (CMT2D), distal spinal muscular atrophy type V (dSMA-V), GARS, glycyl-tRNA synthetase (GlyRS), peripheral neuropathy.. CC-BY-NC 4.0 International license It is made available under a (which was not peer-reviewed) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.The copyright holder for this preprint . http://dx.doi.org/10.1101/081513 doi: bioRxiv preprint first posted online Oct. 17, 2016; 2 AbstractIt remains a mystery how dominantly inherited mutations in the housekeeping gene GARS, which encodes glycyl-tRNA synthetase (GlyRS), mediate selective peripheral nerve toxicity resulting in the currently incurable Charcot-Marie-Tooth disease type 2D (CMT2D). A recent study identified the transmembrane receptor protein neuropilin 1 (Nrp1) as a substrate for aberrant extracellular binding of mutant GlyRS.