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@ARTICLE{ScekicZahirovic:155496,
      author       = {Scekic-Zahirovic, Jelena and Sanjuan-Ruiz, Inmaculada and
                      Kan, Vanessa and Megat, Salim and De Rossi, Pierre and
                      Dieterlé, Stéphane and Cassel, Raphaelle and Jamet,
                      Marguerite and Kessler, Pascal and Wiesner, Diana and
                      Tzeplaeff, Laura and Demais, Valérie and Sahadevan, Sonu
                      and Hembach, Katharina M and Muller, Hans-Peter and
                      Picchiarelli, Gina and Mishra, Nibha and Antonucci, Stefano
                      and Dirrig-Grosch, Sylvie and Kassubek, Jan and Rasche,
                      Volker and Ludolph, Albert and Boutillier, Anne-Laurence and
                      Roselli, Francesco and Polymenidou, Magdalini and
                      Lagier-Tourenne, Clotilde and Liebscher, Sabine and Dupuis,
                      Luc},
      title        = {{C}ytoplasmic {FUS} triggers early behavioral alterations
                      linked to cortical neuronal hyperactivity and inhibitory
                      synaptic defects.},
      journal      = {Nature Communications},
      volume       = {12},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DZNE-2021-00692},
      pages        = {3028},
      year         = {2021},
      abstract     = {Gene mutations causing cytoplasmic mislocalization of the
                      RNA-binding protein FUS lead to severe forms of amyotrophic
                      lateral sclerosis (ALS). Cytoplasmic accumulation of FUS is
                      also observed in other diseases, with unknown consequences.
                      Here, we show that cytoplasmic mislocalization of FUS drives
                      behavioral abnormalities in knock-in mice, including
                      locomotor hyperactivity and alterations in social
                      interactions, in the absence of widespread neuronal loss.
                      Mechanistically, we identified a progressive increase in
                      neuronal activity in the frontal cortex of Fus knock-in mice
                      in vivo, associated with altered synaptic gene expression.
                      Synaptic ultrastructural and morphological defects were more
                      pronounced in inhibitory than excitatory synapses and
                      associated with increased synaptosomal levels of FUS and its
                      RNA targets. Thus, cytoplasmic FUS triggers synaptic
                      deficits, which is leading to increased neuronal activity in
                      frontal cortex and causing related behavioral phenotypes.
                      These results indicate that FUS mislocalization may trigger
                      deleterious phenotypes beyond motor neuron impairment in
                      ALS, likely relevant also for other neurodegenerative
                      diseases characterized by FUS mislocalization.},
      keywords     = {Amyotrophic Lateral Sclerosis: genetics / Amyotrophic
                      Lateral Sclerosis: metabolism / Animals / Cytoplasm:
                      metabolism / Female / Gene Expression / Gene Knock-In
                      Techniques / Male / Mice / Mice, Inbred C57BL / Motor
                      Neurons: metabolism / Mutation / Phenotype / RNA-Binding
                      Protein FUS: genetics / RNA-Binding Protein FUS: metabolism
                      / Synapses: metabolism / Synaptic Transmission: physiology /
                      FUS protein, mouse (NLM Chemicals) / RNA-Binding Protein FUS
                      (NLM Chemicals)},
      cin          = {AG Roselli / Clinical Study Center Ulm},
      ddc          = {500},
      cid          = {I:(DE-2719)1910001 / I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34021132},
      pmc          = {pmc:PMC8140148},
      doi          = {10.1038/s41467-021-23187-9},
      url          = {https://pub.dzne.de/record/155496},
}