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@ARTICLE{Khlwein:257780,
      author       = {Kühlwein, Julia and Ruf, Wolfgang and Kandler, Katharina
                      and Witzel, Simon and Lang, Christina and Mulaw, Medhanie A
                      and Ekici, Arif B and Weishaupt, Jochen H and Ludolph,
                      Albert C and Grozdanov, Veselin and Danzer, Karin M},
      title        = {{ALS} is imprinted in the chromatin accessibility of blood
                      cells.},
      journal      = {Cellular and molecular life sciences},
      volume       = {80},
      number       = {5},
      issn         = {1420-682X},
      address      = {Cham (ZG)},
      publisher    = {Springer International Publishing AG},
      reportid     = {DZNE-2023-00495},
      pages        = {131},
      year         = {2023},
      abstract     = {Amyotrophic Lateral Sclerosis (ALS) is a complex and
                      incurable neurodegenerative disorder in which genetic and
                      epigenetic factors contribute to the pathogenesis of all
                      forms of ALS. The interplay of genetic predisposition and
                      environmental footprints generates epigenetic signatures in
                      the cells of affected tissues, which then alter
                      transcriptional programs. Epigenetic modifications that
                      arise from genetic predisposition and systemic environmental
                      footprints should in theory be detectable not only in
                      affected CNS tissue but also in the periphery. Here, we
                      identify an ALS-associated epigenetic signature
                      ('epiChromALS') by chromatin accessibility analysis of blood
                      cells of ALS patients. In contrast to the blood
                      transcriptome signature, epiChromALS includes also genes
                      that are not expressed in blood cells; it is enriched in CNS
                      neuronal pathways and it is present in the ALS motor cortex.
                      By combining simultaneous ATAC-seq and RNA-seq with
                      single-cell sequencing in PBMCs and motor cortex from ALS
                      patients, we demonstrate that epigenetic changes associated
                      with the neurodegenerative disease can be found in the
                      periphery, thus strongly suggesting a mechanistic link
                      between the epigenetic regulation and disease pathogenesis.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: metabolism /
                      Epigenesis, Genetic / Chromatin / Genetic Predisposition to
                      Disease / Neurodegenerative Diseases: genetics / Blood
                      Cells: metabolism / Blood Cells: pathology / Chromatin
                      remodeling (Other) / Epigenome (Other) / Integrated analysis
                      (Other) / Motor neuron disease (Other) / Regulatory elements
                      (Other) / Single-nuclei sequencing (Other) / Chromatin (NLM
                      Chemicals)},
      cin          = {AG Danzer / Clinical Study Center Ulm},
      ddc          = {610},
      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},
      pubmed       = {pmid:37095391},
      pmc          = {pmc:PMC10126052},
      doi          = {10.1007/s00018-023-04769-w},
      url          = {https://pub.dzne.de/record/257780},
}