C9orf72-mediated neurodegeneration: mechanisms and therapeutics

Información del proyecto

C9ND

Identificador del acuerdo de subvención: 648716

DOI

10.3030/648716

Proyecto cerrado

Fecha de la firma de la CE 29 Mayo 2015

Fecha de inicio 1 Octubre 2015

Fecha de finalización 31 Marzo 2021

Financiado con arreglo a

• EXCELLENT SCIENCE - European Research Council (ERC)

Coste total

€ 1 985 699,00

Aportación de la UE

€ 1 985 699,00

Coordinado por

UNIVERSITY COLLEGE LONDON
United Kingdom

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Publicaciones

Peer reviewed articles (20)

Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

Autores: 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
Publicado en: eLife, Edición 10, 2021, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.7554/elife.58565

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

Autores: 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;
Publicado en: Nucleic Acids Research, Edición 2, 2020, ISSN 1362-4962
Editor: 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

Autores: Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley, Adrian M. Isaacs
Publicado en: Acta Neuropathologica Communications, Edición 8/1, 2020, ISSN 2051-5960
Editor: BioMed Central
DOI: 10.1186/s40478-020-01036-y

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

Autores: 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
Publicado en: Acta Neuropathologica, Edición 135/3, 2018, Página(s) 445-457, ISSN 0001-6322
Editor: Springer Verlag
DOI: 10.1007/s00401-017-1798-3

Ageing as a risk factor for ALS/FTD

Autores: Teresa Niccoli, Linda Partridge, Adrian M. Isaacs
Publicado en: Human Molecular Genetics, Edición 26/R2, 2017, Página(s) R105-R113, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddx247

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

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

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

Autores: 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
Publicado en: EMBO Molecular Medicine, Edición 10/1, 2018, Página(s) 22-31, ISSN 1757-4676
Editor: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201707850

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

Autores: 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
Publicado en: Acta Neuropathologica, Edición 135/3, 2018, Página(s) 427-443, ISSN 0001-6322
Editor: Springer Verlag
DOI: 10.1007/s00401-017-1796-5

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

Autores: Rubika Balendra, Thomas G Moens, Adrian M Isaacs
Publicado en: EMBO Molecular Medicine, Edición 9/7, 2017, Página(s) 853-855, ISSN 1757-4676
Editor: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201707848

Genetic models of C9orf72 : what is toxic?

Autores: Thomas G Moens, Linda Partridge, Adrian M Isaacs
Publicado en: Current Opinion in Genetics & Development, Edición 44, 2017, Página(s) 92-101, ISSN 0959-437X
Editor: 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

Autores: 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
Publicado en: Nature Communications, Edición 8, 2017, Página(s) 16063, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/ncomms16063

One target for amyotrophic lateral sclerosis therapy?

Autores: S. Mizielinska, A. M. Isaacs
Publicado en: Science, Edición 353/6300, 2016, Página(s) 647-648, ISSN 0036-8075
Editor: 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

Autores: 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
Publicado en: Acta Neuropathologica, Edición 137/3, 2019, Página(s) 487-500, ISSN 0001-6322
Editor: 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

Autores: 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
Publicado en: Acta Neuropathologica, Edición 139/2, 2020, Página(s) 407-410, ISSN 0001-6322
Editor: 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

Autores: Javier Morón-Oset, Tessa Supèr, Jacqueline Esser, Adrian M. Isaacs, Sebastian Grönke, Linda Partridge
Publicado en: Acta Neuropathologica Communications, Edición 7/1, 2019, ISSN 2051-5960
Editor: BioMed Central
DOI: 10.1186/s40478-019-0860-x

C9orf72-mediated ALS and FTD: multiple pathways to disease

Autores: Rubika Balendra, Adrian M. Isaacs
Publicado en: Nature Reviews Neurology, Edición 14/9, 2018, Página(s) 544-558, ISSN 1759-4758
Editor: 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

Autores: 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
Publicado en: Nature Neuroscience, Edición 22/1, 2019, Página(s) 65-77, ISSN 1097-6256
Editor: 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

Autores: 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
Publicado en: Nature Neuroscience, Edición 22/9, 2019, Página(s) 1383-1388, ISSN 1097-6256
Editor: Nature Publishing Group
DOI: 10.1038/s41593-019-0455-7

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

Autores: Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs, Vincent Plagnol
Publicado en: BMC Medical Genomics, Edición 10/1, 2017, ISSN 1755-8794
Editor: 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

Autores: 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
Publicado en: The EMBO Journal, Edición 37/11, 2018, ISSN 0261-4189
Editor: Nature Publishing Group
DOI: 10.15252/embj.201798684

Non-peer reviewed articles (2)

Relax, Don’t RAN Translate It

Autores: Katherine M. Wilson, Bhavana Muralidharan, Adrian M. Isaacs
Publicado en: Neuron, Edición 104/5, 2019, Página(s) 827-829, ISSN 0896-6273
Editor: Cell Press
DOI: 10.1016/j.neuron.2019.11.014

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

Autores: Pietro Fratta, Adrian M Isaacs
Publicado en: Brain, Edición 141/5, 2018, Página(s) 1236-1238, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awy091