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C9orf72-mediated neurodegeneration: mechanisms and therapeutics

Total Cost €


EC-Contrib. €






Project "C9ND" data sheet

The following table provides information about the project.


Organization address
city: LONDON
postcode: WC1E 6BT
website: n.a.

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website
 Total cost 1˙985˙699 €
 EC max contribution 1˙985˙699 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2014-CoG
 Funding Scheme ERC-COG
 Starting year 2015
 Duration (year-month-day) from 2015-10-01   to  2020-09-30


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITY COLLEGE LONDON UK (LONDON) coordinator 1˙985˙699.00


 Project objective

An expanded GGGGCC repeat in a non-coding region of the C9orf72 gene is the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The repeat RNA is transcribed and accumulates in neuronal RNA aggregates, implicating RNA toxicity as a key pathogenic mechanism. However, the pathways that lead to neurodegeneration are unknown. My lab has made pioneering contributions to the understanding of C9orf72 FTD/ALS, and reported the first structure of the repeat RNA, and the first description of both sense and antisense RNA aggregates in patient brain. We have now developed new disease models that allow, for the first time, the dissection of RNA toxicity both in vivo and in sophisticated neuronal culture models. We have also used our knowledge of the repeat structure to identify novel small molecules that show very strong binding to the repeats. We will utilise our innovative disease models in a multidisciplinary approach to fully dissect the cellular pathways underlying C9orf72 repeat RNA toxicity in vivo, on a genome-wide scale. Altered RNA metabolism has been implicated in a wide range of neurodegenerative diseases, indicating that our findings will provide profound new insight into fundamental mechanisms of neuronal maintenance and survival. This research programme will also deliver a step change in our understanding of C9orf72 FTD/ALS pathogenesis and provide essential insight for the identification of small molecules with genuine therapeutic potential. RNA-mediated mechanisms are now known to be a common theme in neurodegeneration, suggesting these findings will have broad significance.


year authors and title journal last update
List of publications.
2017 Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration
published pages: , ISSN: 2051-5960, DOI: 10.1186/s40478-017-0432-x
Acta Neuropathologica Communications 5/1 2019-06-06
2018 Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo
published pages: 22-31, ISSN: 1757-4676, DOI: 10.15252/emmm.201707850
EMBO Molecular Medicine 10/1 2019-06-06
2017 Teresa Niccoli, Linda Partridge, Adrian M. Isaacs
Ageing as a risk factor for ALS/FTD
published pages: R105-R113, ISSN: 0964-6906, DOI: 10.1093/hmg/ddx247
Human Molecular Genetics 26/R2 2019-06-06
2016 S. Mizielinska, A. M. Isaacs
One target for amyotrophic lateral sclerosis therapy?
published pages: 647-648, ISSN: 0036-8075, DOI: 10.1126/science.aah5408
Science 353/6300 2019-06-06
2017 Rubika Balendra, Thomas G Moens, Adrian M Isaacs
Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
published pages: 853-855, ISSN: 1757-4676, DOI: 10.15252/emmm.201707848
EMBO Molecular Medicine 9/7 2019-06-06
2018 Thomas G. Moens, Sarah Mizielinska, Teresa Niccoli, Jamie S. Mitchell, Annora Thoeng, Charlotte E. Ridler, Sebastian Grönke, Jacqueline Esser, Amanda Heslegrave, Henrik Zetterberg, Linda Partridge, Adrian M. Isaacs
Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD
published pages: 445-457, ISSN: 0001-6322, DOI: 10.1007/s00401-017-1798-3
Acta Neuropathologica 135/3 2019-06-06
2017 Guillaume M. Hautbergue, Lydia M. Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom, Ya-Hui Lin, Claudia S. Bauer, Jennifer E. Dodd, Monika A. Myszczynska, Sarah M. Alam, Pierre Garneret, Jayanth S. Chandran, Evangelia Karyka, Matthew J. Stopford, Emma F. Smith, Janine Kirby, Kathrin Meyer, Brian K. Kaspar, Adrian M. Isaacs, Sherif F. El-Khamisy, Kurt J. De Vos, Ke Ning, Mimoun Azzouz, Alexander J. Whitworth, Pamela J. Shaw
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
published pages: 16063, ISSN: 2041-1723, DOI: 10.1038/ncomms16063
Nature Communications 8 2019-06-06
2018 Bart Swinnen, Andre Bento-Abreu, Tania F. Gendron, Steven Boeynaems, Elke Bogaert, Rik Nuyts, Mieke Timmers, Wendy Scheveneels, Nicole Hersmus, Jiou Wang, Sarah Mizielinska, Adrian M. Isaacs, Leonard Petrucelli, Robin Lemmens, Philip Van Damme, Ludo Van Den Bosch, Wim Robberecht
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism
published pages: 427-443, ISSN: 0001-6322, DOI: 10.1007/s00401-017-1796-5
Acta Neuropathologica 135/3 2019-06-06
2017 Thomas G Moens, Linda Partridge, Adrian M Isaacs
Genetic models of C9orf72 : what is toxic?
published pages: 92-101, ISSN: 0959-437X, DOI: 10.1016/j.gde.2017.01.006
Current Opinion in Genetics & Development 44 2019-06-06

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