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

Project Information

SMABEYOND

Grant agreement ID: 956185

DOI 10.3030/956185

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

Deliverables

Other (1)

Recruitment - Advertising vacancies

D5.1 Advertising vacancies to recruit ESRs [m2]

Documents, reports (1)

Outreach plan (by dissemination committee)

D62 Report on Outreach Plan m12

Websites, patent fillings, videos etc. (1)

Network internal and public website

D61 Dedicated internal and public network website m10

Publications

Peer reviewed articles (5)

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

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

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

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

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