Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Author:

Smith Bradley N.1ORCID,Topp Simon D.1ORCID,Fallini Claudia2ORCID,Shibata Hideki3ORCID,Chen Han-Jou1ORCID,Troakes Claire1ORCID,King Andrew1ORCID,Ticozzi Nicola45ORCID,Kenna Kevin P.2,Soragia-Gkazi Athina1,Miller Jack W.1ORCID,Sato Akane3ORCID,Dias Diana Marques1ORCID,Jeon Maryangel2,Vance Caroline1ORCID,Wong Chun Hao1ORCID,de Majo Martina1ORCID,Kattuah Wejdan1,Mitchell Jacqueline C.1ORCID,Scotter Emma L.6ORCID,Parkin Nicholas W.7ORCID,Sapp Peter C.2,Nolan Matthew1ORCID,Nestor Peter J.8,Simpson Michael9,Weale Michael9,Lek Monkel1011,Baas Frank12,Vianney de Jong J. M.12,ten Asbroek Anneloor L. M. A.12ORCID,Redondo Alberto Garcia13ORCID,Esteban-Pérez Jesús13,Tiloca Cinzia45ORCID,Verde Federico45,Duga Stefano1415ORCID,Leigh Nigel16ORCID,Pall Hardev17,Morrison Karen E.18,Al-Chalabi Ammar1,Shaw Pamela J.19ORCID,Kirby Janine19ORCID,Turner Martin R.20ORCID,Talbot Kevin20ORCID,Hardiman Orla21,Glass Jonathan D.22,De Belleroche Jacqueline23ORCID,Maki Masatoshi3,Moss Stephen E.24ORCID,Miller Christopher1,Gellera Cinzia25ORCID,Ratti Antonia45,Al-Sarraj Safa1ORCID,Brown Robert H.2,Silani Vincenzo45ORCID,Landers John E.2ORCID,Shaw Christopher E.1

Affiliation:

1. United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.

2. Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.

3. Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan.

4. Department of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.

5. Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, 20122 Milan, Italy.

6. Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, 85 Park Road, Grafton, Auckland, New Zealand.

7. Molecular Genetics Laboratory, Viapath, Genetics Centre, Guy’s Hospital, Great Maze Pond, SE1 9RT London, UK.

8. German Center for Neurodegenerative Diseases, Leipziger Str. 44, 39120 Magdeburg, Germany.

9. Medical & Molecular Genetics, Division of Genetics and Molecular Medicine, King’s College London, Guy’s Tower, London Bridge, SE1 9RT London, UK.

10. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

11. Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.

12. Department of Genome Analysis, University of Amsterdam, Academic Medical Centre, P.O. Box 22700, 1100DE Amsterdam, Netherlands.

13. Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U-723 Madrid, Spain.

14. Department of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.

15. Humanitas Clinical and Research Center, Via Manzoni 56, 20089 Rozzano, Milan, Italy.

16. Trafford Centre for Medical Research, Brighton and Sussex Medical School, BN1 9RY Brighton, UK.

17. School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

18. University of Southampton, Southampton General Hospital, SO16 6YD, UK.

19. Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

20. Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.

21. Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.

22. Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA.

23. Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, W12 0NN London, UK.

24. Institute of Ophthalmology, University College London, 11-43 Bath Street, EC1V 9EL London, UK.

25. Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” 20133 Milan, Italy.

Abstract

Annexin A11 mutations, implicated in ALS, prevent binding to calcyclin and induce the formation of cytoplasmic inclusions.

Funder

National Institutes of Health

Medical Research Council

Seventh Framework Programme

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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