Article
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.
Human molecular genetics - 15 Apr 2016
Malissovas Nikos, Griffin Laurie B, Antonellis Anthony, Beis Dimitris
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of peripheral neuropathies. Mutations in several aminoacyl-tRNA synthetase (ARS) genes have been implicated in inherited CMT disease. There are 12 reported CMT-causing mutations dispersed throughout the primary sequence of the human glycyl-tRNA synthetase (GARS). While there is strong genetic evidence linking GARS mutations to CMT disease, the...
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