Article
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Human mutation - 1 Mar 2018
Abbott Jamie A, Meyer-Schuman Rebecca, Lupo Vincenzo, Feely Shawna, Mademan Inès, Oprescu Stephanie N, Griffin Laurie B, Alberti M Antonia, Casasnovas Carlos, Aharoni Sharon, Basel-Vanagaite Lina, Züchner Stephan, De Jonghe Peter, Baets Jonathan, Shy Michael E, Espinós Carmen, Demeler Borries, Antonellis Anthony, Francklyn Christopher
Abstract excerpt
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...
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