Article
GARS axonopathy: not every neuron's cup of tRNA.
Trends in neurosciences - 1 Feb 2010
Motley William W, Talbot Kevin, Fischbeck Kenneth H
Abstract excerpt
Charcot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase (GARS). The mutations are distributed throughout the protein in multiple functional domains. In biochemical and cell culture experiments, some mutant forms of GARS have been indistinguishable from wild-type protein, suggesting that these in vitro tests might not adequately assess the aberrant...
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