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@ARTICLE{Schilling:140674,
      author       = {Schilling, Judith and Broemer, Meike and Atanassov, Ilian
                      and Dürnberger, Yvonne and Vorberg, Ina and Dieterich,
                      Christoph and Dagane, Alina and Dittmar, Gunnar and Wanker,
                      Erich and van Roon-Mom, Willeke and Winter, Jennifer and
                      Krauß, Sybille},
      title        = {{D}eregulated {S}plicing {I}s a {M}ajor {M}echanism of
                      {RNA}-{I}nduced {T}oxicity in {H}untington's {D}isease.},
      journal      = {Journal of molecular biology},
      volume       = {431},
      number       = {9},
      issn         = {0022-2836},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2020-06996},
      pages        = {1869-1877},
      year         = {2019},
      abstract     = {Huntington's disease (HD) is caused by an expanded CAG
                      repeat in the huntingtin (HTT) gene, translating into an
                      elongated polyglutamine stretch. In addition to the
                      neurotoxic mutant HTT protein, the mutant CAG repeat RNA can
                      exert toxic functions by trapping RNA-binding proteins.
                      While few examples of proteins that aberrantly bind to
                      mutant HTT RNA and execute abnormal function in conjunction
                      with the CAG repeat RNA have been described, an unbiased
                      approach to identify the interactome of mutant HTT RNA is
                      missing. Here, we describe the analysis of proteins that
                      preferentially bind mutant HTT RNA using a mass spectrometry
                      approach. We show that (I) the majority of proteins captured
                      by mutant HTT RNA belong to the spliceosome pathway, (II)
                      expression of mutant CAG repeat RNA induces mis-splicing in
                      a HD cell model, (III) overexpression of one of the splice
                      factors trapped by mutant HTT ameliorates the HD phenotype
                      in a fly model and (VI) deregulated splicing occurs in human
                      HD brain. Our data suggest that deregulated splicing is a
                      prominent mechanism of RNA-induced toxicity in HD.},
      keywords     = {Animals / Humans / Huntingtin Protein: genetics /
                      Huntington Disease: genetics / RNA: genetics / RNA Splicing:
                      genetics / Spliceosomes: genetics},
      cin          = {AG Krauß ; AG Krauß / AG Brömer 1 ; AG Brömer 1 / AG
                      Vorberg},
      ddc          = {610},
      cid          = {I:(DE-2719)1011006 / I:(DE-2719)5000021 /
                      I:(DE-2719)1013004},
      pnm          = {342 - Disease Mechanisms and Model Systems (POF3-342) / 341
                      - Molecular Signaling (POF3-341)},
      pid          = {G:(DE-HGF)POF3-342 / G:(DE-HGF)POF3-341},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30711541},
      doi          = {10.1016/j.jmb.2019.01.034},
      url          = {https://pub.dzne.de/record/140674},
}