CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

Weiwei He, Ge Bai, Huihao Zhou, Na Wei, Nicholas M. White, Janelle Lauer, Huaqing Liu, Yi Shi, Calin Dan Dumitru, Karen Lettieri, Veronica Shubayev, Albena Jordanova, Velina Guergueltcheva, Patrick R. Griffin, Robert W. Burgess, Samuel L. Pfaff () and Xiang-Lei Yang ()
Additional contact information
Weiwei He: The Scripps Research Institute
Ge Bai: Howard Hughes Medical Institute and Gene Expression Laboratory, The Salk Institute for Biological Studies
Huihao Zhou: The Scripps Research Institute
Na Wei: The Scripps Research Institute
Nicholas M. White: Howard Hughes Medical Institute and Gene Expression Laboratory, The Salk Institute for Biological Studies
Janelle Lauer: The Scripps Research Institute
Huaqing Liu: University of California San Diego
Yi Shi: The Scripps Research Institute
Calin Dan Dumitru: The Scripps Research Institute
Karen Lettieri: Howard Hughes Medical Institute and Gene Expression Laboratory, The Salk Institute for Biological Studies
Veronica Shubayev: University of California San Diego
Albena Jordanova: Molecular Neurogenomics Group, University of Antwerp
Velina Guergueltcheva: Medical University of Sofia
Patrick R. Griffin: The Scripps Research Institute
Robert W. Burgess: The Jackson Laboratory
Samuel L. Pfaff: Howard Hughes Medical Institute and Gene Expression Laboratory, The Salk Institute for Biological Studies
Xiang-Lei Yang: The Scripps Research Institute

Nature, 2015, vol. 526, issue 7575, 710-714

Abstract: Charcot–Marie–Tooth diseases are hereditary peripheral neuropathies for which there are currently no effective therapies; here the type 2D subtype of these diseases is shown to be caused by mutations impeding a signalling pathway necessary for motor neuron survival.

Date: 2015
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DOI: 10.1038/nature15510

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