Article
Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.
Proceedings of the National Academy of Sciences of the United States of America - 26 Jul 2011
He Weiwei, Zhang Hui-Min, Chong Yeeting E, Guo Min, Marshall Alan G, Yang Xiang-Lei
Abstract excerpt
The question of how dispersed mutations in one protein engender the same gain-of-function phenotype is of great interest. Here we focus on mutations in glycyl-tRNA synthetase (GlyRS) that cause an axonal form of Charcot-Marie-Tooth (CMT) diseases, the most common hereditary peripheral neuropathies. Because the disease phenotype is dominant, and not correlated with defects in the role of GlyRS in protein...
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