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

Risultati finali

D5.1 Advertising vacancies to recruit ESRs [m2]

Outreach plan (by dissemination committee)

D62 Report on Outreach Plan m12

D61 Dedicated internal and public network website m10

Pubblicazioni

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

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

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

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

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

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