% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Yazar:259245,
      author       = {Yazar, Volkan and Kühlwein, Julia and Knehr, Antje and
                      Grozdanov, Veselin and Ekici, Arif B and Ludolph, Albert C
                      and Danzer, Karin M},
      title        = {{I}mpaired {ATF}3 signaling involves {SNAP}25 in {SOD}1
                      mutant {ALS} patients.},
      journal      = {Scientific reports},
      volume       = {13},
      number       = {1},
      issn         = {2045-2322},
      address      = {[London]},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DZNE-2023-00746},
      pages        = {12019},
      year         = {2023},
      abstract     = {Epigenetic remodeling is emerging as a critical process for
                      several neurodegenerative diseases, including amyotrophic
                      lateral sclerosis (ALS). Genetics alone fails to explain the
                      etiology of ALS, the investigation of the epigenome might
                      therefore provide novel insights into the molecular
                      mechanisms of the disease. In this study, we interrogated
                      the epigenetic landscape in peripheral blood mononuclear
                      cells (PBMCs) of familial ALS (fALS) patients with either
                      chromosome 9 open reading frame 72 (C9orf72) or superoxide
                      dismutase 1 (SOD1) mutation and aimed to identify key
                      epigenetic footprints of the disease. To this end, we used
                      an integrative approach that combines chromatin
                      immunoprecipitation targeting H3K27me3 (ChIP-Seq) with the
                      matching gene expression data to gain new insights into the
                      likely impact of blood-specific chromatin remodeling on
                      ALS-related molecular mechanisms. We demonstrated that one
                      of the hub molecules that modulates changes in PBMC
                      transcriptome in SOD1-mutant ALS patients is ATF3, which has
                      been previously reported in an SOD1G93A mouse model. We also
                      identified potential suppression of SNAP25, with impaired
                      ATF3 signaling in SOD1-mutant ALS blood. Together, our study
                      shed light on the mechanistic underpinnings of SOD1
                      mutations in ALS.},
      keywords     = {Animals / Mice / Amyotrophic Lateral Sclerosis: genetics /
                      Amyotrophic Lateral Sclerosis: metabolism / Leukocytes,
                      Mononuclear: metabolism / Mice, Transgenic / Mutation /
                      Superoxide Dismutase: genetics / Superoxide Dismutase:
                      metabolism / Superoxide Dismutase-1: genetics / Superoxide
                      Dismutase (NLM Chemicals) / Superoxide Dismutase-1 (NLM
                      Chemicals) / SNAP25 protein, human (NLM Chemicals) / SOD1
                      protein, human (NLM Chemicals)},
      cin          = {AG Danzer / Clinical Study Center Ulm},
      ddc          = {600},
      cid          = {I:(DE-2719)5000072 / I:(DE-2719)5000077},
      pnm          = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
                      Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC10368635},
      pubmed       = {pmid:37491426},
      doi          = {10.1038/s41598-023-38684-8},
      url          = {https://pub.dzne.de/record/259245},
}