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

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Publications

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

Auteurs: 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
Publié dans: Cells, 2022, ISSN 2073-4409
Éditeur: MDPI
DOI: 10.3390/cells11172624

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

Auteurs: Sofia Vrettou; Brunhilde Wirth
Publié dans: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms232415849

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

Auteurs: 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
Publié dans: The Journal of Clinical Investigation, Numéro 15588238, 2022, ISSN 1558-8238
Éditeur: The American Society of Clinical Investigation
DOI: 10.1172/jci153430

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

Auteurs: 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
Publié dans: Cellular and Molecular Life Sciences, 2022, ISSN 1436-4891
Éditeur: Springer
DOI: 10.1007/s00018-022-04544-3

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

Auteurs: 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
Publié dans: European Journal of Neurology, 2022, ISSN 1468-1331
Éditeur: Wiley online library
DOI: 10.1111/ene.15331

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