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

Author:

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

Funder

aTyr Pharma

National Foundation for Cancer Research

Research Grants Council of Hong Kong

JPB Foundation

Simons Foundation

NIH

chILD-EU

Bundesministerium für Bildung und Forschung

HCQ4Surfdefect

European Union

GENOMIT

EU Horizon2020 Collaborative Research Project SOUND

Else Kröner-Fresenius-Stiftung

European Cooperation in Science and Technology COST

Wellcome Centre for Mitochondrial Research

Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease

Mitochondrial Disease Patient Cohort

Lily Foundation

UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference54 articles.

1. Aminoacyl tRNA synthetases and their connections to disease;Park;Proc. Natl. Acad. Sci. USA,2008

2. New functions of aminoacyl-tRNA synthetases beyond translation;Guo;Nat. Rev. Mol. Cell Biol.,2010

3. Essential nontranslational functions of tRNA synthetases;Guo;Nat. Chem. Biol.,2013

4. Architecture and metamorphosis;Guo;Top. Curr. Chem.,2014

5. tRNA synthetase: tRNA aminoacylation and beyond;Pang;Wiley Interdiscip. Rev. RNA,2014

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