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Defective protein translation as a pathogenic mechanism of peripheral neuropathy

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Publications

Xrp1 genetically interacts with the ALS-associated FUS orthologue caz and mediates its toxicity

Author(s): Moushami Mallik, Marica Catinozzi, Clemens B. Hug, Li Zhang, Marina Wagner, Julia Bussmann, Jonas Bittern, Sina Mersmann, Christian Klämbt, Hannes C.A. Drexler, Martijn A. Huynen, Juan M. Vaquerizas, Erik Storkebaum
Published in: The Journal of Cell Biology, Issue 217/11, 2018, Page(s) 3947-3964, ISSN 0021-9525
DOI: 10.1083/jcb.201802151

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

Author(s): Marcel Naumann, Arun Pal, Anand Goswami, Xenia Lojewski, Julia Japtok, Anne Vehlow, Maximilian Naujock, René Günther, Mengmeng Jin, Nancy Stanslowsky, Peter Reinhardt, Jared Sterneckert, Marie Frickenhaus, Francisco Pan-Montojo, Erik Storkebaum, Ina Poser, Axel Freischmidt, Jochen H. Weishaupt, Karlheinz Holzmann, Dirk Troost, Albert C. Ludolph, Tobias M. Boeckers, Stefan Liebau, Susanne Petri,
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-017-02299-1

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

Author(s): Gina Picchiarelli, Maria Demestre, Amila Zuko, Marije Been, Julia Higelin, Stéphane Dieterlé, Marc-Antoine Goy, Moushami Mallik, Chantal Sellier, Jelena Scekic-Zahirovic, Li Zhang, Angela Rosenbohm, Céline Sijlmans, Amr Aly, Sina Mersmann, Inmaculada Sanjuan-Ruiz, Annemarie Hübers, Nadia Messaddeq, Marina Wagner, Nick van Bakel, Anne-Laurence Boutillier, Albert Ludolph, Clotilde Lagier-Tourenn
Published in: Nature Neuroscience, Issue 22/11, 2019, Page(s) 1793-1805, ISSN 1097-6256
DOI: 10.1038/s41593-019-0498-9

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

Author(s): Thomas G. Moens, Teresa Niccoli, Katherine M. Wilson, Magda L. Atilano, Nicol Birsa, Lauren M. Gittings, Benedikt V. Holbling, Miranda C. Dyson, Annora Thoeng, Jacob Neeves, Idoia Glaria, Lu Yu, Julia Bussmann, Erik Storkebaum, Mercedes Pardo, Jyoti S. Choudhary, Pietro Fratta, Linda Partridge, Adrian M. Isaacs
Published in: Acta Neuropathologica, Issue 137/3, 2019, Page(s) 487-500, ISSN 0001-6322
DOI: 10.1007/s00401-018-1946-4