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

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Publications

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

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

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

Auteurs: 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
Publié dans: Cell Reports Medicine, Numéro 5, 2024, Page(s) 101659, ISSN 2666-3791
Éditeur: 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

Auteurs: Anixa Muiños-Bühl, Roman Rombo, Karen K. Ling, Eleonora Zilio, Frank Rigo, C. Frank Bennett, Brunhilde Wirth
Publié dans: International Journal of Molecular Sciences, Numéro 24, 2023, Page(s) 4198, ISSN 1422-0067
Éditeur: 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

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

Innovating spinal muscular atrophy models in the therapeutic era

Auteurs: Ilaria Signoria, W. Ludo van der Pol, Ewout J. N. Groen
Publié dans: Disease Models & Mechanisms, Numéro 16, 2023, ISSN 1754-8403
Éditeur: 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

Auteurs: Shamini Hemandhar Kumar, Ines Tapken, Daniela Kuhn, Peter Claus, Klaus Jung
Publié dans: Frontiers in Bioinformatics, Numéro 4, 2024, ISSN 2673-7647
Éditeur: Frontiers in Bioinformatics
DOI: 10.3389/fbinf.2024.1380928

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

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

Auteurs: Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler, Gabriella Viero
Publié dans: Biochem Soc Trans, 2024, ISSN 1470-8752
Éditeur: Portland Press
DOI: 10.1042/bst20231116

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

Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models

Auteurs: 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
Publié dans: iScience, Numéro 24, 2023, Page(s) 103376, ISSN 2589-0042
Éditeur: iScience
DOI: 10.1016/j.isci.2021.103376

Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy

Auteurs: Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell, Parth Patel, Giovanni Baranello, Francesco Muntoni, Haiyan Zhou
Publié dans: Scientific Reports, Numéro 14, 2024, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-024-74338-z

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling

Auteurs: 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
Publié dans: Nature Communications, Numéro 14, 2024, ISSN 2041-1723
Éditeur: Nature Publishing Group
DOI: 10.1038/s41467-023-35908-3

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

Auteurs: Eike A. Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth
Publié dans: The American Journal of Human Genetics, Numéro 110, 2023, Page(s) 442-459, ISSN 0002-9297
Éditeur: 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

Auteurs: 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
Publié dans: Brain, Numéro 146, 2023, Page(s) 534-548, ISSN 0006-8950
Éditeur: Oxford University Press
DOI: 10.1093/brain/awac278

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

Auteurs: 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
Publié dans: biorxiv, 2024, ISSN 2692-8205
Éditeur: bioRxiv
DOI: 10.1101/2024.07.24.604892

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

Auteurs: 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
Publié dans: Acta Neuropathologica, Numéro 146, 2023, Page(s) 477-498, ISSN 0001-6322
Éditeur: Springer Verlag
DOI: 10.1007/s00401-023-02607-8

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

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

Auteurs: 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
Publié dans: Brain, 2024, ISSN 0006-8950
Éditeur: Oxford University Press
DOI: 10.1093/brain/awae272

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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