Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Author:

Barel Ortal12,Malicdan May Christine V34,Ben-Zeev Bruria256,Kandel Judith7,Pri-Chen Hadass35,Stephen Joshi3,Castro Inês G8,Metz Jeremy8,Atawa Osama9,Moshkovitz Sharon12,Ganelin Esther56,Barshack Iris510,Polak-Charcon Sylvie510,Nass Dvora510,Marek-Yagel Dina2511,Amariglio Ninette12,Shalva Nechama511,Vilboux Thierry312,Ferreira Carlos313,Pode-Shakked Ben51114,Heimer Gali5614,Hoffmann Chen515,Yardeni Tal16,Nissenkorn Andreea517,Avivi Camila10,Eyal Eran12,Kol Nitzan12,Glick Saar Efrat12,Wallace Douglas C16,Gahl William A34,Rechavi Gideon125,Schrader Michael8,Eckmann David M71819,Anikster Yair2511

Affiliation:

1. Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel

2. The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel

3. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

4. NIH Undiagnosed Diseases Program, NHGRI, National Institutes of Health, Bethesda, Maryland, USA

5. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

6. Pediatric Neurology Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel

7. Department of Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA

8. Department of Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter, UK

9. Palestenian Red Crescent Society Hospital, Department of Pediatrics, Hebron City, Palestine

10. Department of Pathology, Sheba Medical Center, Tel-Hashomer, Israel

11. Metabolic Disease Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel

12. Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia, USA

13. Division of Genetics and Metabolism, Children’s National Health System, Washington DC, USA

14. The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel

15. Department of Radiology, Sheba Medical Center, Tel-Hashomer, Israel

16. Center for Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

17. Service for Rare Disorders, Pediatric Neurology Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel

18. Department of Anesthesiology and Critical Care, Perelman School of Medicine, Philadelphia, Pennsylvania, USA

19. Institute for Medicine and Engineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Funder

Wellcome Trust

Office of Naval Research (ONR)

BBSRC

Marie Curie Initial Training Network (ITN)

NGHRI Intramural Research

Kahn Family Foundation and the Israeli Centers of Excellence (I-CORE)

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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