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@ARTICLE{Mori:138773,
      author       = {Mori, Kohji and Nihei, Yoshihiro and Arzberger, Thomas and
                      Zhou, Qihui and Mackenzie, Ian R and Hermann, Andreas and
                      Hanisch, Frank and Degeneration, German Consortium for
                      Frontotemporal Lobar and Alliance, Bavarian Brain Banking
                      and Kamp, Frits and Nuscher, Brigitte and Orozco, Denise and
                      Edbauer, Dieter and Haass, Christian},
      title        = {{R}educed hn{RNPA}3 increases {C}9orf72 repeat {RNA} levels
                      and dipeptide-repeat protein deposition.},
      journal      = {EMBO reports},
      volume       = {17},
      number       = {9},
      issn         = {1469-221X},
      address      = {Hoboken, NJ [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2020-05095},
      pages        = {1314-1325},
      year         = {2016},
      abstract     = {Intronic hexanucleotide (G4C2) repeat expansions in C9orf72
                      are genetically associated with frontotemporal lobar
                      degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).
                      The repeat RNA accumulates within RNA foci but is also
                      translated into disease characterizing dipeptide repeat
                      proteins (DPR). Repeat-dependent toxicity may affect nuclear
                      import. hnRNPA3 is a heterogeneous nuclear
                      ribonucleoprotein, which specifically binds to the G4C2
                      repeat RNA We now report that a reduction of nuclear hnRNPA3
                      leads to an increase of the repeat RNA as well as DPR
                      production and deposition in primary neurons and a novel
                      tissue culture model that reproduces features of the C9orf72
                      pathology. In fibroblasts derived from patients carrying
                      extended C9orf72 repeats, nuclear RNA foci accumulated upon
                      reduction of hnRNPA3. Neurons in the hippocampus of C9orf72
                      patients are frequently devoid of hnRNPA3. Reduced nuclear
                      hnRNPA3 in the hippocampus of patients with extended C9orf72
                      repeats correlates with increased DPR deposition. Thus,
                      reduced hnRNPA3 expression in C9orf72 cases leads to
                      increased levels of the repeat RNA as well as enhanced
                      production and deposition of DPR proteins and RNA foci.},
      keywords     = {Animals / Brain: metabolism / C9orf72 Protein / Dipeptides:
                      metabolism / Fibroblasts / Gene Expression Regulation / Gene
                      Knockdown Techniques / HeLa Cells / Heterogeneous-Nuclear
                      Ribonucleoprotein Group A-B: metabolism / Humans / Neurons:
                      metabolism / Protein Binding / Protein Transport / Proteins:
                      genetics / Pyramidal Cells: metabolism / RNA Transport /
                      RNA, Messenger: genetics / RNA, Small Interfering: genetics
                      / Rats / C9orf72 Protein (NLM Chemicals) / C9orf72 protein,
                      human (NLM Chemicals) / Dipeptides (NLM Chemicals) / HNRNPA3
                      protein, human (NLM Chemicals) / Heterogeneous-Nuclear
                      Ribonucleoprotein Group A-B (NLM Chemicals) / Proteins (NLM
                      Chemicals) / RNA, Messenger (NLM Chemicals) / RNA, Small
                      Interfering (NLM Chemicals)},
      cin          = {AG Levin / AG Edbauer / AG Haass / AG Teipel / AG Zhou},
      ddc          = {570},
      cid          = {I:(DE-2719)1111016 / I:(DE-2719)1110004 /
                      I:(DE-2719)1110007 / I:(DE-2719)1510100 /
                      I:(DE-2719)5000080},
      pnm          = {344 - Clinical and Health Care Research (POF3-344) / 342 -
                      Disease Mechanisms and Model Systems (POF3-342)},
      pid          = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-342},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27461252},
      pmc          = {pmc:PMC5007570},
      doi          = {10.15252/embr.201541724},
      url          = {https://pub.dzne.de/record/138773},
}