Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

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 synthet...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6035289/
https://ncbi.nlm.nih.gov/pubmed/29979980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.06.006
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