Nature Communications (Jan 2018)
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity
- Bhuvaneish T. Selvaraj,
- Matthew R. Livesey,
- Chen Zhao,
- Jenna M. Gregory,
- Owain T. James,
- Elaine M. Cleary,
- Amit K. Chouhan,
- Angus B. Gane,
- Emma M. Perkins,
- Owen Dando,
- Simon G. Lillico,
- Youn-Bok Lee,
- Agnes L. Nishimura,
- Urjana Poreci,
- Sai Thankamony,
- Meryll Pray,
- Navneet A. Vasistha,
- Dario Magnani,
- Shyamanga Borooah,
- Karen Burr,
- David Story,
- Alexander McCampbell,
- Christopher E. Shaw,
- Peter C. Kind,
- Timothy J. Aitman,
- C. Bruce A. Whitelaw,
- Ian Wilmut,
- Colin Smith,
- Gareth B. Miles,
- Giles E. Hardingham,
- David J. A. Wyllie,
- Siddharthan Chandran
Affiliations
- Bhuvaneish T. Selvaraj
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Matthew R. Livesey
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Chen Zhao
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Jenna M. Gregory
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Owain T. James
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Elaine M. Cleary
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Amit K. Chouhan
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Angus B. Gane
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Emma M. Perkins
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Owen Dando
- Centre for Discovery Brain Sciences, University of Edinburgh
- Simon G. Lillico
- The Roslin Institute and R(D)SVS, University of Edinburgh
- Youn-Bok Lee
- Maurice Wohl Clinical Neuroscience Institute, King’s College London
- Agnes L. Nishimura
- Maurice Wohl Clinical Neuroscience Institute, King’s College London
- Urjana Poreci
- Global Biomarker and Drug Discovery, Biogen
- Sai Thankamony
- Global Biomarker and Drug Discovery, Biogen
- Meryll Pray
- Global Biomarker and Drug Discovery, Biogen
- Navneet A. Vasistha
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Dario Magnani
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Shyamanga Borooah
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Karen Burr
- MRC Centre for Regenerative Medicine, University of Edinburgh
- David Story
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Alexander McCampbell
- Neurology Research, Biogen
- Christopher E. Shaw
- Maurice Wohl Clinical Neuroscience Institute, King’s College London
- Peter C. Kind
- Centre for Discovery Brain Sciences, University of Edinburgh
- Timothy J. Aitman
- MRC Institute of Genetics and Molecular Medicine, University of Edinburgh
- C. Bruce A. Whitelaw
- The Roslin Institute and R(D)SVS, University of Edinburgh
- Ian Wilmut
- MRC Centre for Regenerative Medicine, University of Edinburgh
- Colin Smith
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Gareth B. Miles
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Giles E. Hardingham
- Euan MacDonald Centre for MND Research, University of Edinburgh
- David J. A. Wyllie
- Euan MacDonald Centre for MND Research, University of Edinburgh
- Siddharthan Chandran
- MRC Centre for Regenerative Medicine, University of Edinburgh
- DOI
- https://doi.org/10.1038/s41467-017-02729-0
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 14
Abstract
Repeat expansion mutation in C9ORF72 is the most common cause of familial ALS. Here, the authors generate motor neurons from cells of patients with C9ORF72 mutations, and characterize changes in gene expression in these motor neurons compared to genetically corrected lines, which suggest that glutamate receptor subunit GluA1 is dysregulated in this form of ALS.
