A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Author:

Piard Juliette12,Umanah George K Essien34,Harms Frederike L5,Abalde-Atristain Leire36,Amram Daniel7,Chang Melissa34,Chen Rong34,Alawi Malik89,Salpietro Vincenzo10,Rees Mark I11,Chung Seo-Kyung11,Houlden Henry10,Verloes Alain12,Dawson Ted M3461314,Dawson Valina L3461315,Van Maldergem Lionel1216,Kutsche Kerstin5

Affiliation:

1. Centre de génétique humaine, Université de Franche-Comté, Besançon, France

2. Integrative and Cognitive Neurosciences Research Unit EA481, University of Franche-Comté, Besançon, France

3. Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

4. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

5. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany

6. Cellular and Molecular Medicine Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

7. Unité fonctionnelle de génétique clinique, Centre hospitalier intercommunal, Créteil, France

8. University Medical Center Hamburg-Eppendorf, Bioinformatics Core Facility, 20246 Hamburg, Germany

9. Heinrich-Pette-Institute, Leibniz-Institute for Experimental Virology, Virus Genomics, Hamburg, Germany

10. Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK

11. Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea, UK

12. Department of Genetics, Robert-Debré Hospital, Paris, France

13. Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

14. Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

15. Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

16. Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), University of Franche-Comté, Besançon, France

Funder

Deutsche Forschungsgemeinschaft

National Institutes of Health

National Institute on Drug Abuse

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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