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

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Picchiarelli, Gina | Demestre, Maria | Zuko, Amila | Been, Marije | Higelin, Julia | Dieterlé, Stéphane | Goy, Marc-Antoine | Mallik, Moushami | Sellier, Chantal | Scekic-Zahirovic, Jelena | Zhang, Li | Rosenbohm, Angela | Sijlmans, Céline | Aly, Amr | Mersmann, Sina | Sanjuan-Ruiz, Inmaculada | Hübers, Annemarie | Messaddeq, Nadia | Wagner, Marina | van Bakel, Nick | Boutillier, Anne-Laurence | Ludolph, Albert | Lagier-Tourenne, Clotilde | Boeckers, Tobias | Dupuis, Luc | Storkebaum, Erik

Edité par CCSD ; Nature Publishing Group -

International audience. Further information on research design is available in the Life Sciences Reporting Summary linked to this article. Data availability and biological materials The data that support the findings of this study and biological materials used are available from the corresponding authors upon request. Author contributions GP performed most of the experiments in heterozygous knock-in mice and in C2C12 cells, with the help of SD, MAG, JSZ and ISR. MD, JH and AA performed most of the experiments in human derived cells and tissues. AZ, MB, MM, LZ, CS, SM, MW, NvB and ES performed and analyzed the experiments in homozygous knock-in, MyoD-CRE rescued knock-in, and knockout mice. CS performed immunoprecipitation experiments. NM performed electron microscopy. ALB supervised ChIP experiments. AR provided human muscle biopsies. AH performed and analyzed patient EMG analysis. AL provided patient and clinical material. MD, CLT, TMB, LD and ES initiated, conceived and supervised the project. GP, MD, LD and ES wrote the manuscript. All authors contributed to the experimental design and interpretation and commented on the manuscript.

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