Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Author:

Sommerville Ewen W1,Zhou Xiao-Long2,Oláhová Monika1,Jenkins Janda3,Euro Liliya4,Konovalova Svetlana4,Hilander Taru4,Pyle Angela1,He Langping1,Habeebu Sultan3,Saunders Carol356,Kelsey Anna7,Morris Andrew A M7,McFarland Robert1,Suomalainen Anu489,Gorman Gráinne S1,Wang En-Duo2,Thiffault Isabelle356,Tyynismaa Henna4,Taylor Robert W1

Affiliation:

1. Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

2. State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China

3. Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA

4. Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland

5. Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA

6. School of Medicine, University of Missouri Kansas City, Kansas City, MO , USA

7. Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK

8. Neuroscience Center, Helsinki Institute of Life Sciences, University of Helsinki, Helsinki Finland

9. Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland

Funder

Mitochondrial Research Guild

Medical Research Council

Centre for Translational Research in Neuromuscular Disease

National Institute for Health Research

Biomedical Research Foundation

Newcastle University

Engineering and Physical Sciences Research Council

Academy of Finland

National Natural Science Foundation of China

Shanghai Rising-Star Program

Youth Innovation Promotion Association, CAS

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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