Spinal Muscular Atrophy (SMA) beyond motoneuron degeneration: multi-system aspects

Project Information

SMABEYOND

Grant agreement ID: 956185

DOI

10.3030/956185

Project closed

EC signature date 20 July 2020

Start date 1 October 2020

End date 30 September 2024

Funded under

• EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions

Total cost

€ 2 142 734,76

EU contribution

€ 2 142 734,76

Coordinated by

SMATHERIA GGMBH
Germany

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Documents, reports (2)

Report on minimum 15 presentations at international conferences (m48)

D6.4 Report on minimum 15 presentations at international conferences [m48]

Outreach plan (by dissemination committee)

D62 Report on Outreach Plan m12

Other (2)

Recruitment - Advertising vacancies

D5.1 Advertising vacancies to recruit ESRs [m2]

MOOC: summary of participants, content, outcome and reactions

D4.4 Report and summary on MOOC [m47]

Websites, patent fillings, videos etc. (1)

Network internal and public website

D61 Dedicated internal and public network website m10

Publications

Peer reviewed articles (22)

Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy

Author(s): Rachel James; Kiterie M. E. Faller; Ewout J. N. Groen; Brunhilde Wirth; Thomas H. Gillingwater
Published in: Communications Medicine, 2024, ISSN 2730-664X
Publisher: London: Nature Portfolio
DOI: 10.1038/s43856-024-00515-w

Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation

Author(s): Tobias Grass, Zeynep Dokuzluoglu, Felix Buchner, Ines Rosignol, Joshua Thomas, Antonio Caldarelli, Anna Dalinskaya, Jutta Becker, Fabian Rost, Michele Marass, Brunhilde Wirth, Marc Beyer, Lorenzo Bonaguro, Natalia Rodriguez-Muela
Published in: Cell Reports Medicine, Issue 5, 2024, Page(s) 101659, ISSN 2666-3791
Publisher: Cell Reports Medicine
DOI: 10.1016/j.xcrm.2024.101659

Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects

Author(s): Anixa Muiños-Bühl, Roman Rombo, Karen K. Ling, Eleonora Zilio, Frank Rigo, C. Frank Bennett, Brunhilde Wirth
Published in: International Journal of Molecular Sciences, Issue 24, 2023, Page(s) 4198, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms24044198

The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap

Author(s): Sharon J. Brown, Rachel A. Kline , Silvia A. Synowsky, Sally L. Shirran, Ian Holt, Kelly A. Sillence, Peter Claus, Brunhilde Wirth,Thomas M. Wishart and Heidi R. Fuller
Published in: Cells, 2022, ISSN 2073-4409
Publisher: MDPI
DOI: 10.3390/cells11172624

Innovating spinal muscular atrophy models in the therapeutic era

Author(s): Ilaria Signoria, W. Ludo van der Pol, Ewout J. N. Groen
Published in: Disease Models & Mechanisms, Issue 16, 2023, ISSN 1754-8403
Publisher: The Company of Biologists Ltd.
DOI: 10.1242/dmm.050352

bootGSEA: a bootstrap and rank aggregation pipeline for multi-study and multi-omics enrichment analyses

Author(s): Shamini Hemandhar Kumar, Ines Tapken, Daniela Kuhn, Peter Claus, Klaus Jung
Published in: Frontiers in Bioinformatics, Issue 4, 2024, ISSN 2673-7647
Publisher: Frontiers in Bioinformatics
DOI: 10.3389/fbinf.2024.1380928

S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases

Author(s): Sofia Vrettou; Brunhilde Wirth
Published in: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms232415849

The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies

Author(s): Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler, Gabriella Viero
Published in: Biochem Soc Trans, 2024, ISSN 1470-8752
Publisher: Portland Press
DOI: 10.1042/bst20231116

Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

Author(s): Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, and Francesco Muntoni
Published in: The Journal of Clinical Investigation, Issue 15588238, 2022, ISSN 1558-8238
Publisher: The American Society of Clinical Investigation
DOI: 10.1172/jci153430

Plastin 3 in health and disease: a matter of balance

Author(s): Lisa Wolff; Eike A. Strathmann; Ilka Müller; Daniela Mählich; Charlotte Veltman; Anja Niehoff; Anja Niehoff; Brunhilde Wirth
Published in: Cellular and Molecular Life Sciences, 2021, ISSN 1436-4891
Publisher: Springer
DOI: 10.1007/s00018-021-03843-5

Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models

Author(s): Jannik M. Buettner, Josiane K. Sime Longang, Florian Gerstner, Katharina S. Apel, Beatriz Blanco-Redondo, Leonie Sowoidnich, Eva Janzen, Tobias Langenhan, Brunhilde Wirth, Christian M. Simon
Published in: iScience, Issue 24, 2023, Page(s) 103376, ISSN 2589-0042
Publisher: iScience
DOI: 10.1016/j.isci.2021.103376

Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment

Author(s): F.E.V. Scheijmans, I. Cuppen, M.M. Zwartkruis, I. Signoria, C. van Ekris, F. Asselman, R.I. Wadman, E.F. Knol, W.L. van der Pol, E.J.N. Groen
Published in: European Journal of Paediatric Neurology, 2022, ISSN 1090-3798
Publisher: W. B. Saunders Co., Ltd.
DOI: 10.1016/j.ejpn.2022.12.003

Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy

Author(s): Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell, Parth Patel, Giovanni Baranello, Francesco Muntoni, Haiyan Zhou
Published in: Scientific Reports, Issue 14, 2024, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-024-74338-z

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling

Author(s): Biljana Ermanoska, Bob Asselbergh, Laura Morant, Maria-Luise Petrovic-Erfurth, Seyyedmohsen Hosseinibarkooie, Ricardo Leitão-Gonçalves, Leonardo Almeida-Souza, Sven Bervoets, Litao Sun, LaTasha Lee, Derek Atkinson, Akram Khanghahi, Ivaylo Tournev, Patrick Callaerts, Patrik Verstreken, Xiang-Lei Yang, Brunhilde Wirth, Avital A. Rodal, Vincent Timmerman, Bruce L. Goode, Tanja A. Godenschwege, Albe
Published in: Nature Communications, Issue 14, 2024, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-023-35908-3

Mitochondrial Dysfunction in Spinal Muscular Atrophy

Author(s): Eleonora Zilio,Valentina Piano, and Brunhilde Wirth
Published in: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms231810878

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4

Author(s): Eike A. Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth
Published in: The American Journal of Human Genetics, Issue 110, 2023, Page(s) 442-459, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2023.02.004

<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Author(s): Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne-Sophie Deno
Published in: Brain, Issue 146, 2023, Page(s) 534-548, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awac278

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

Author(s): Ilaria Signoria, Maria M. Zwartkruis, Lotte Geerlofs, Elena Perenthaler, Kiterie M.E. Faller, Rachel James, Harriet McHale-Owen, Jared W. Green, Joris Kortooms, Sophie H. Snellen, Fay-Lynn Asselman, Thomas H. Gillingwater, Gabriella Viero, Renske I. Wadman, W. Ludo van der Pol, Ewout J.N. Groen
Published in: biorxiv, 2024, ISSN 2692-8205
Publisher: bioRxiv
DOI: 10.1101/2024.07.24.604892

SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration

Author(s): Tyler R. Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Anixa Muiños-Bühl, Eric N. Anderson, Charlie H. Nelson IV, Caroline Ward, Om Chauhan, Casey O’Brien, Dhivyaa Rajasundaram, Deepa S. Rajan, Brunhilde Wirth, Amit Singh, Udai Bhan Pandey
Published in: Acta Neuropathologica, Issue 146, 2023, Page(s) 477-498, ISSN 0001-6322
Publisher: Springer Verlag
DOI: 10.1007/s00401-023-02607-8

CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia

Author(s): Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Markus Storbeck, Jordina Guillén Boixet, Sabina Barresi, Simone Pizzi, Irmgard Hölker, Friederike Körber, Titus M. Franzmann, Enrico S. Bertini, Janbernd Kirschner, Simon Alberti, Marco Tartaglia & Brunhilde Wirth
Published in: Cellular and Molecular Life Sciences, 2022, ISSN 1436-4891
Publisher: Springer
DOI: 10.1007/s00018-022-04544-3

The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy

Author(s): Ines Tapken, Theresa Schweitzer, Martina Paganin, Tobias Schüning, Nora T Detering, Gaurav Sharma, Moritz Niesert, Afshin Saffari, Daniela Kuhn, Amy Glynn, Federica Cieri, Pamela Santonicola, Claire Cannet, Florian Gerstner, Kiterie M E Faller, Yu-Ting Huang, Rashmi Kothary, Thomas H Gillingwater, Elia Di Schiavi, Christian M Simon, Niko Hensel, Andreas Ziegler, Gabriella Viero, Andreas Pich, Pet
Published in: Brain, 2024, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awae272

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

Author(s): Schorling, David; Kölbel, Heike; Hentschel, Andreas; Pechmann, Astrid; Meyer, Nancy; Wirth, Brunhilde; Rombo, Roman; SMArtCARE consortium; Sickmann, Albert; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, Hanns; Roos, Andreas
Published in: European Journal of Neurology, 2022, ISSN 1468-1331
Publisher: Wiley online library
DOI: 10.1111/ene.15331

Conference proceedings (1)

264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th - 21st 2021

Author(s): Nora Tula Detering, Alberto Zambo2, Niko Hensel, Rashmi Kothary, Kathryn Swoboda, Thomas H Gillingwater, Giovanni Baranello; Workshop participants; Industry participants
Published in: Neuromuscular Disorders, 2021
Publisher: Elsevier
DOI: 10.1016/j.nmd.2022.06.005