Article
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
American journal of human genetics - 5 Jul 2018
Xu Zhiwen, Lo Wing-Sze, Beck David B, Schuch Luise A, Oláhová Monika, Kopajtich Robert, Chong Yeeting E, Alston Charlotte L, Seidl Elias, Zhai Liting, Lau Ching-Fun, Timchak Donna, LeDuc Charles A, Borczuk Alain C, Teich Andrew F, Juusola Jane, Sofeso Christina, Müller Christoph, Pierre Germaine, Hilliard Tom, Turnpenny Peter D, Wagner Matias, Kappler Matthias, Brasch Frank, Bouffard John Paul, Nangle Leslie A, Yang Xiang-Lei, Zhang Mingjie, Taylor Robert W, Prokisch Holger, Griese Matthias, Chung Wendy K, Schimmel Paul
Abstract excerpt
The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike dominantly inherited gain-of-function mutations, recessive loss-of-function mutations can potentially...
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