Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Author:

Hathazi Denisa1,Griffin Helen2,Jennings Matthew J1,Giunta Michele2,Powell Christopher3ORCID,Pearce Sarah F34,Munro Benjamin1,Wei Wei13,Boczonadi Veronika2,Poulton Joanna5,Pyle Angela2,Calabrese Claudia13,Gomez‐Duran Aurora13,Schara Ulrike6,Pitceathly Robert D S7,Hanna Michael G7,Joost Kairit8ORCID,Cotta Ana9,Paim Julia Filardi9,Navarro Monica Machado10,Duff Jennifer2,Mattman Andre11,Chapman Kristine11,Servidei Serenella12,Della Marina Adela6,Uusimaa Johanna13,Roos Andreas614,Mootha Vamsi15,Hirano Michio16,Tulinius Mar17,Giri Mamta18,Hoffmann Eric P18,Lochmüller Hanns19202122,DiMauro Salvatore16,Minczuk Michal3ORCID,Chinnery Patrick F13ORCID,Müller Juliane S1,Horvath Rita1ORCID

Affiliation:

1. Department of Clinical Neurosciences School of Clinical Medicine University of Cambridge Cambridge UK

2. Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute Newcastle University Newcastle upon Tyne UK

3. MRC Mitochondrial Biology Unit Cambridge UK

4. Karolinska Institute University of Stockholm Stockholm Sweden

5. Nuffield Department of Obstetrics & Gynaecology University of Oxford Oxford UK

6. Pediatric Neurology University of Essen Essen Germany

7. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery London UK

8. Centre of Allergology and Immunology East‐Tallinn Central Hospital Tallinn Estonia

9. Department of Pathology Neuromuscular Unit SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil

10. Department of Pediatrics Neuromuscular Unit SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil

11. Department of Pathology and Laboratory Medicine SPH St. Paul's Hospital Vancouver BC Canada

12. Department of Neurology Università Cattolica del Sacro Cuore Roma Italy

13. PEDEGO Research Unit/Pediatric Neurology Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland

14. Leibniz Institute for Analytical Sciences (ISAS) Dortmund Germany

15. Howard Hughes Medical Institute Harvard Medical School Boston MA USA

16. Department of Neurology Columbia University Medical Center New York NY USA

17. Department of Pediatrics The Sahlgrenska Academy University of Gothenburg Gothenburg Sweden

18. School of Pharmacy and Pharmaceutical Sciences Binghampton University New York NY USA

19. Department of Neuropediatrics and Muscle Disorders Medical Center Faculty of Medicine University of Freiburg Freiburg Germany

20. Centro Nacional de Análisis Genómico (CNAG‐CRG) Center for Genomic Regulation Barcelona Institute of Science and Technology (BIST) Barcelona Spain

21. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa ON Canada

22. Division of Neurology Department of Medicine The Ottawa Hospital Ottawa ON Canada

Funder

Wellcome Trust

Medical Research Council

H2020 European Research Council

Newton Fund

Publisher

EMBO

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,Molecular Biology,General Neuroscience

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