Article
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
Proceedings of the National Academy of Sciences of the United States of America - 3 Jul 2007
Nangle Leslie A, Zhang Wei, Xie Wei, Yang Xiang-Lei, Schimmel Paul
Abstract excerpt
Charcot-Marie-Tooth (CMT) diseases are the most common heritable peripheral neuropathy. At least 10 different mutant alleles of GARS (the gene for glycyl-tRNA synthetase) have been reported to cause a dominant axonal form of CMT (type 2D). A unifying connection between these mutations and CMT has been unclear. Here, mapping mutations onto the recently determined crystal structure of human GlyRS showed them within...
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