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

Informazioni relative al progetto

SMABEYOND

ID dell’accordo di sovvenzione: 956185

DOI

10.3030/956185

Progetto chiuso

Data della firma CE 20 Luglio 2020

Data di avvio 1 Ottobre 2020

Data di completamento 30 Settembre 2024

Finanziato da

• EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions

Costo totale

€ 2 142 734,76

Contributo UE

€ 2 142 734,76

Coordinato da

SMATHERIA GGMBH
Germany

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Risultati finali

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

Pubblicazioni

Peer reviewed articles (22)

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

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

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

Autori: 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
Pubblicato in: Cell Reports Medicine, Numero 5, 2024, Pagina/e 101659, ISSN 2666-3791
Editore: 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

Autori: Anixa Muiños-Bühl, Roman Rombo, Karen K. Ling, Eleonora Zilio, Frank Rigo, C. Frank Bennett, Brunhilde Wirth
Pubblicato in: International Journal of Molecular Sciences, Numero 24, 2023, Pagina/e 4198, ISSN 1422-0067
Editore: 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

Autori: 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
Pubblicato in: Cells, 2022, ISSN 2073-4409
Editore: MDPI
DOI: 10.3390/cells11172624

Innovating spinal muscular atrophy models in the therapeutic era

Autori: Ilaria Signoria, W. Ludo van der Pol, Ewout J. N. Groen
Pubblicato in: Disease Models & Mechanisms, Numero 16, 2023, ISSN 1754-8403
Editore: 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

Autori: Shamini Hemandhar Kumar, Ines Tapken, Daniela Kuhn, Peter Claus, Klaus Jung
Pubblicato in: Frontiers in Bioinformatics, Numero 4, 2024, ISSN 2673-7647
Editore: Frontiers in Bioinformatics
DOI: 10.3389/fbinf.2024.1380928

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

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

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

Autori: Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler, Gabriella Viero
Pubblicato in: Biochem Soc Trans, 2024, ISSN 1470-8752
Editore: Portland Press
DOI: 10.1042/bst20231116

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

Autori: 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
Pubblicato in: The Journal of Clinical Investigation, Numero 15588238, 2022, ISSN 1558-8238
Editore: The American Society of Clinical Investigation
DOI: 10.1172/jci153430

Plastin 3 in health and disease: a matter of balance

Autori: Lisa Wolff; Eike A. Strathmann; Ilka Müller; Daniela Mählich; Charlotte Veltman; Anja Niehoff; Anja Niehoff; Brunhilde Wirth
Pubblicato in: Cellular and Molecular Life Sciences, 2021, ISSN 1436-4891
Editore: 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

Autori: 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
Pubblicato in: iScience, Numero 24, 2023, Pagina/e 103376, ISSN 2589-0042
Editore: iScience
DOI: 10.1016/j.isci.2021.103376

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

Autori: 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
Pubblicato in: European Journal of Paediatric Neurology, 2022, ISSN 1090-3798
Editore: 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

Autori: Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell, Parth Patel, Giovanni Baranello, Francesco Muntoni, Haiyan Zhou
Pubblicato in: Scientific Reports, Numero 14, 2024, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-024-74338-z

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling

Autori: 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
Pubblicato in: Nature Communications, Numero 14, 2024, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-023-35908-3

Mitochondrial Dysfunction in Spinal Muscular Atrophy

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

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

Autori: Eike A. Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth
Pubblicato in: The American Journal of Human Genetics, Numero 110, 2023, Pagina/e 442-459, ISSN 0002-9297
Editore: 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

Autori: 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
Pubblicato in: Brain, Numero 146, 2023, Pagina/e 534-548, ISSN 0006-8950
Editore: Oxford University Press
DOI: 10.1093/brain/awac278

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

Autori: 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
Pubblicato in: biorxiv, 2024, ISSN 2692-8205
Editore: bioRxiv
DOI: 10.1101/2024.07.24.604892

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

Autori: 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
Pubblicato in: Acta Neuropathologica, Numero 146, 2023, Pagina/e 477-498, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-023-02607-8

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

Autori: 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
Pubblicato in: Cellular and Molecular Life Sciences, 2022, ISSN 1436-4891
Editore: Springer
DOI: 10.1007/s00018-022-04544-3

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

Autori: 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
Pubblicato in: Brain, 2024, ISSN 0006-8950
Editore: Oxford University Press
DOI: 10.1093/brain/awae272

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

Autori: 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
Pubblicato in: European Journal of Neurology, 2022, ISSN 1468-1331
Editore: 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

Autori: Nora Tula Detering, Alberto Zambo2, Niko Hensel, Rashmi Kothary, Kathryn Swoboda, Thomas H Gillingwater, Giovanni Baranello; Workshop participants; Industry participants
Pubblicato in: Neuromuscular Disorders, 2021
Editore: Elsevier
DOI: 10.1016/j.nmd.2022.06.005