C9orf72-mediated neurodegeneration: mechanisms and therapeutics

Informazioni relative al progetto

C9ND

ID dell’accordo di sovvenzione: 648716

DOI

10.3030/648716

Progetto chiuso

Data della firma CE 29 Maggio 2015

Data di avvio 1 Ottobre 2015

Data di completamento 31 Marzo 2021

Finanziato da

• EXCELLENT SCIENCE - European Research Council (ERC)

Costo totale

€ 1 985 699,00

Contributo UE

€ 1 985 699,00

Coordinato da

UNIVERSITY COLLEGE LONDON
United Kingdom

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Peer reviewed articles (20)

Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

Autori: Magda L Atilano, Sebastian Grönke, Teresa Niccoli, Liam Kempthorne, Oliver Hahn, Javier Morón-Oset, Oliver Hendrich, Miranda Dyson, Mirjam Lisette Adams, Alexander Hull, Marie-Therese Salcher-Konrad, Amy Monaghan, Magda Bictash, Idoia Glaria, Adrian M Isaacs, Linda Partridge
Pubblicato in: eLife, Numero 10, 2021, ISSN 2050-084X
Editore: eLife Sciences Publications
DOI: 10.7554/elife.58565

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.

Autori: Agnieszka M Ule; Jack Humphrey; Irene Bozzoni; Irene Bozzoni; Carmelo Milioto; Vincent Plagnol; Maria Giovanna Garone; David Robaldo; Cristian Bodo; Seth Jarvis; Gianni Sorarù; Martha McLaughlin; Nicol Birsa; Marc-David Ruepp; Alessandro Rosa; Alessandro Rosa; Anna-Leigh Brown; Andrea B. Eberle; Anny Devoy; Anny Devoy; Adrian M. Isaacs; Matthew Bentham; Elizabeth M. C. Fisher; Giampietro Schiavo;
Pubblicato in: Nucleic Acids Research, Numero 2, 2020, ISSN 1362-4962
Editore: Oxford University Press
DOI: 10.7892/boris.144156

Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

Autori: Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley, Adrian M. Isaacs
Pubblicato in: Acta Neuropathologica Communications, Numero 8/1, 2020, ISSN 2051-5960
Editore: BioMed Central
DOI: 10.1186/s40478-020-01036-y

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD

Autori: 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
Pubblicato in: Acta Neuropathologica, Numero 135/3, 2018, Pagina/e 445-457, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-017-1798-3

Ageing as a risk factor for ALS/FTD

Autori: Teresa Niccoli, Linda Partridge, Adrian M. Isaacs
Pubblicato in: Human Molecular Genetics, Numero 26/R2, 2017, Pagina/e R105-R113, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddx247

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

Autori: Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs
Pubblicato in: Acta Neuropathologica Communications, Numero 5/1, 2017, ISSN 2051-5960
Editore: BioMed Central
DOI: 10.1186/s40478-017-0432-x

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

Autori: 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 D
Pubblicato in: EMBO Molecular Medicine, Numero 10/1, 2018, Pagina/e 22-31, ISSN 1757-4676
Editore: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201707850

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

Autori: 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
Pubblicato in: Acta Neuropathologica, Numero 135/3, 2018, Pagina/e 427-443, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-017-1796-5

Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

Autori: Rubika Balendra, Thomas G Moens, Adrian M Isaacs
Pubblicato in: EMBO Molecular Medicine, Numero 9/7, 2017, Pagina/e 853-855, ISSN 1757-4676
Editore: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201707848

Genetic models of C9orf72 : what is toxic?

Autori: Thomas G Moens, Linda Partridge, Adrian M Isaacs
Pubblicato in: Current Opinion in Genetics & Development, Numero 44, 2017, Pagina/e 92-101, ISSN 0959-437X
Editore: Elsevier BV
DOI: 10.1016/j.gde.2017.01.006

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

Autori: 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
Pubblicato in: Nature Communications, Numero 8, 2017, Pagina/e 16063, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/ncomms16063

One target for amyotrophic lateral sclerosis therapy?

Autori: S. Mizielinska, A. M. Isaacs
Pubblicato in: Science, Numero 353/6300, 2016, Pagina/e 647-648, ISSN 0036-8075
Editore: American Association for the Advancement of Science
DOI: 10.1126/science.aah5408

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

Autori: Thomas G. Moens, Teresa Niccoli, Katherine M. Wilson, Magda L. Atilano, Nicol Birsa, Lauren M. Gittings, Benedikt V. Holbling, Miranda C. Dyson, Annora Thoeng, Jacob Neeves, Idoia Glaria, Lu Yu, Julia Bussmann, Erik Storkebaum, Mercedes Pardo, Jyoti S. Choudhary, Pietro Fratta, Linda Partridge, Adrian M. Isaacs
Pubblicato in: Acta Neuropathologica, Numero 137/3, 2019, Pagina/e 487-500, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-018-1946-4

Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity

Autori: Lauren M. Gittings, Steven Boeynaems, Daniel Lightwood, Alison Clargo, Sarfaraj Topia, Lisa Nakayama, Claire Troakes, David M. A. Mann, Aaron D. Gitler, Tammaryn Lashley, Adrian M. Isaacs
Pubblicato in: Acta Neuropathologica, Numero 139/2, 2020, Pagina/e 407-410, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-019-02104-x

Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

Autori: Javier Morón-Oset, Tessa Supèr, Jacqueline Esser, Adrian M. Isaacs, Sebastian Grönke, Linda Partridge
Pubblicato in: Acta Neuropathologica Communications, Numero 7/1, 2019, ISSN 2051-5960
Editore: BioMed Central
DOI: 10.1186/s40478-019-0860-x

C9orf72-mediated ALS and FTD: multiple pathways to disease

Autori: Rubika Balendra, Adrian M. Isaacs
Pubblicato in: Nature Reviews Neurology, Numero 14/9, 2018, Pagina/e 544-558, ISSN 1759-4758
Editore: Nature Publishing Group
DOI: 10.1038/s41582-018-0047-2

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

Autori: Florent Laferrière, Zuzanna Maniecka, Manuela Pérez-Berlanga, Marian Hruska-Plochan, Larissa Gilhespy, Eva-Maria Hock, Ulrich Wagner, Tariq Afroz, Paul J. Boersema, Gery Barmettler, Sandrine C. Foti, Yasmine T. Asi, Adrian M. Isaacs, Ashraf Al-Amoudi, Amanda Lewis, Henning Stahlberg, John Ravits, Francesca De Giorgi, François Ichas, Erwan Bezard, Paola Picotti, Tammaryn Lashley, Magdalini Polym
Pubblicato in: Nature Neuroscience, Numero 22/1, 2019, Pagina/e 65-77, ISSN 1097-6256
Editore: Nature Publishing Group
DOI: 10.1038/s41593-018-0294-y

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Autori: Shizuka B. Yamada, Tania F. Gendron, Teresa Niccoli, Naomi R. Genuth, Rosslyn Grosely, Yingxiao Shi, Idoia Glaria, Nicholas J. Kramer, Lisa Nakayama, Shirleen Fang, Tai J. I. Dinger, Annora Thoeng, Gabriel Rocha, Maria Barna, Joseph D. Puglisi, Linda Partridge, Justin K. Ichida, Adrian M. Isaacs, Leonard Petrucelli, Aaron D. Gitler
Pubblicato in: Nature Neuroscience, Numero 22/9, 2019, Pagina/e 1383-1388, ISSN 1097-6256
Editore: Nature Publishing Group
DOI: 10.1038/s41593-019-0455-7

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

Autori: Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs, Vincent Plagnol
Pubblicato in: BMC Medical Genomics, Numero 10/1, 2017, ISSN 1755-8794
Editore: BioMed Central
DOI: 10.1186/s12920-017-0274-1

Mice with endogenous TDP ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

Autori: Pietro Fratta, Prasanth Sivakumar, Jack Humphrey, Kitty Lo, Thomas Ricketts, Hugo Oliveira, Jose M Brito‐Armas, Bernadett Kalmar, Agnieszka Ule, Yichao Yu, Nicol Birsa, Cristian Bodo, Toby Collins, Alexander E Conicella, Alan Mejia Maza, Alessandro Marrero‐Gagliardi, Michelle Stewart, Joffrey Mianne, Silvia Corrochano, Warren Emmett, Gemma Codner, Michael Groves, Ryutaro Fukumura, Yoichi Gondo
Pubblicato in: The EMBO Journal, Numero 37/11, 2018, ISSN 0261-4189
Editore: Nature Publishing Group
DOI: 10.15252/embj.201798684

Non-peer reviewed articles (2)

Relax, Don’t RAN Translate It

Autori: Katherine M. Wilson, Bhavana Muralidharan, Adrian M. Isaacs
Pubblicato in: Neuron, Numero 104/5, 2019, Pagina/e 827-829, ISSN 0896-6273
Editore: Cell Press
DOI: 10.1016/j.neuron.2019.11.014

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis

Autori: Pietro Fratta, Adrian M Isaacs
Pubblicato in: Brain, Numero 141/5, 2018, Pagina/e 1236-1238, ISSN 0006-8950
Editore: Oxford University Press
DOI: 10.1093/brain/awy091