Ontology highlight
ABSTRACT:
SUBMITTER: Abbott JA
PROVIDER: S-EPMC5983030 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Abbott Jamie A JA Meyer-Schuman Rebecca R Lupo Vincenzo V Feely Shawna S Mademan Inès I Oprescu Stephanie N SN Griffin Laurie B LB Alberti M Antonia MA Casasnovas Carlos C Aharoni Sharon S Basel-Vanagaite Lina L Züchner Stephan S De Jonghe Peter P Baets Jonathan J Shy Michael E ME Espinós Carmen C Demeler Borries B Antonellis Anthony A Francklyn Christopher C
Human mutation 20171226 3
Histidyl-tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcot-Marie-Tooth disease type 2W (CMT2W); however, the precise molecular mechanism remains undefined. Here, we investigated three HARS missense mutations associated with CMT2W (p.Tyr330Cys, p.Ser356Asn, and p.Val155Gly). The three mutations localize to the HARS catalytic domain and failed to complement deletio ...[more]