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

Información del proyecto

SMABEYOND

Identificador del acuerdo de subvención: 956185

DOI

10.3030/956185

Proyecto cerrado

Fecha de la firma de la CE 20 Julio 2020

Fecha de inicio 1 Octubre 2020

Fecha de finalización 30 Septiembre 2024

Financiado con arreglo a

• EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions

Coste total

€ 2 142 734,76

Aportación de la UE

€ 2 142 734,76

Coordinado por

SMATHERIA GGMBH
Germany

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 .

Resultado final

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

Publicaciones

Peer reviewed articles (22)

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

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

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

Autores: 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
Publicado en: Cell Reports Medicine, Edición 5, 2024, Página(s) 101659, ISSN 2666-3791
Editor: 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

Autores: Anixa Muiños-Bühl, Roman Rombo, Karen K. Ling, Eleonora Zilio, Frank Rigo, C. Frank Bennett, Brunhilde Wirth
Publicado en: International Journal of Molecular Sciences, Edición 24, 2023, Página(s) 4198, ISSN 1422-0067
Editor: 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

Autores: 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
Publicado en: Cells, 2022, ISSN 2073-4409
Editor: MDPI
DOI: 10.3390/cells11172624

Innovating spinal muscular atrophy models in the therapeutic era

Autores: Ilaria Signoria, W. Ludo van der Pol, Ewout J. N. Groen
Publicado en: Disease Models & Mechanisms, Edición 16, 2023, ISSN 1754-8403
Editor: 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

Autores: Shamini Hemandhar Kumar, Ines Tapken, Daniela Kuhn, Peter Claus, Klaus Jung
Publicado en: Frontiers in Bioinformatics, Edición 4, 2024, ISSN 2673-7647
Editor: Frontiers in Bioinformatics
DOI: 10.3389/fbinf.2024.1380928

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

Autores: Sofia Vrettou; Brunhilde Wirth
Publicado en: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms232415849

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

Autores: Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler, Gabriella Viero
Publicado en: Biochem Soc Trans, 2024, ISSN 1470-8752
Editor: Portland Press
DOI: 10.1042/bst20231116

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

Autores: 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
Publicado en: The Journal of Clinical Investigation, Edición 15588238, 2022, ISSN 1558-8238
Editor: The American Society of Clinical Investigation
DOI: 10.1172/jci153430

Plastin 3 in health and disease: a matter of balance

Autores: Lisa Wolff; Eike A. Strathmann; Ilka Müller; Daniela Mählich; Charlotte Veltman; Anja Niehoff; Anja Niehoff; Brunhilde Wirth
Publicado en: Cellular and Molecular Life Sciences, 2021, ISSN 1436-4891
Editor: 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

Autores: 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
Publicado en: iScience, Edición 24, 2023, Página(s) 103376, ISSN 2589-0042
Editor: iScience
DOI: 10.1016/j.isci.2021.103376

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

Autores: 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
Publicado en: European Journal of Paediatric Neurology, 2022, ISSN 1090-3798
Editor: 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

Autores: Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell, Parth Patel, Giovanni Baranello, Francesco Muntoni, Haiyan Zhou
Publicado en: Scientific Reports, Edición 14, 2024, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-024-74338-z

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling

Autores: 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
Publicado en: Nature Communications, Edición 14, 2024, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-023-35908-3

Mitochondrial Dysfunction in Spinal Muscular Atrophy

Autores: Eleonora Zilio,Valentina Piano, and Brunhilde Wirth
Publicado en: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms231810878

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

Autores: Eike A. Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth
Publicado en: The American Journal of Human Genetics, Edición 110, 2023, Página(s) 442-459, ISSN 0002-9297
Editor: 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

Autores: 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
Publicado en: Brain, Edición 146, 2023, Página(s) 534-548, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awac278

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

Autores: 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
Publicado en: biorxiv, 2024, ISSN 2692-8205
Editor: bioRxiv
DOI: 10.1101/2024.07.24.604892

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

Autores: 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
Publicado en: Acta Neuropathologica, Edición 146, 2023, Página(s) 477-498, ISSN 0001-6322
Editor: Springer Verlag
DOI: 10.1007/s00401-023-02607-8

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

Autores: 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
Publicado en: Cellular and Molecular Life Sciences, 2022, ISSN 1436-4891
Editor: Springer
DOI: 10.1007/s00018-022-04544-3

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

Autores: 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
Publicado en: Brain, 2024, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awae272

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

Autores: 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
Publicado en: European Journal of Neurology, 2022, ISSN 1468-1331
Editor: 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

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