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@ARTICLE{Ruf:285638,
      author       = {Ruf, Wolfgang P and Kühlwein, Julia and Meier, Laura and
                      Tripke, Sarah and LeeBae, Jaehyun and Sadri-Vakili, Ghazaleh
                      and Yilmazer-Hanke, Deniz and Petri, Susanne and Thal,
                      Dietmar R and Grozdanov, Veselin and Danzer, Karin M},
      title        = {{M}ulti-modal dissection of cell-type specific {TDP}-43
                      pathology in the motor cortex.},
      journal      = {Nature Communications},
      volume       = {17},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2026-00277},
      pages        = {2406},
      year         = {2026},
      abstract     = {Cytoplasmic TDP-43 pathology is a pathological sign of
                      ALS/ALS-FTD and a converging disease event across different
                      genotypes, phenotypes and CNS areas. To understand this
                      process and target it therapeutically, we need to define
                      which cell types are affected and which cell-type specific
                      effects make them particularly vulnerable. We coupled
                      flow-cytometry nuclear sorting and sequencing with
                      single-nucleus multi-omic ATAC-seq and RNA-seq and spatial
                      transcriptomics to define the transcriptional cell type of
                      affected neurons in the post-mortem ALS/ALS-FTD motor cortex
                      (30 ALS, 20 ALS-FTD $\&$ 32 control samples). Here, we show
                      that mainly excitatory cortical neurons are affected by
                      TDP-43 pathology and define the cell types that are affected
                      the most: intratelencephalic L2-L3-LINC00507-FREM3,
                      L3-L5-RORB-LNX2, L3-L5-RORB-ADGRL4 $\&$ L6-THEMIS-LINC00343
                      neurons and extratelencephalic L5-FEZF2-NTNG1 neurons.
                      Transcriptional aberrations by TDP-43 pathology, like
                      cryptic exon inclusion, are cell-type specific and affect
                      distinct gene sets in each cell type, highlighting the need
                      to address TDP-43 pathology in a cell-type specific manner.},
      keywords     = {Motor Cortex: pathology / Motor Cortex: metabolism / Humans
                      / DNA-Binding Proteins: metabolism / DNA-Binding Proteins:
                      genetics / Amyotrophic Lateral Sclerosis: pathology /
                      Amyotrophic Lateral Sclerosis: genetics / Amyotrophic
                      Lateral Sclerosis: metabolism / Male / Neurons: metabolism /
                      Neurons: pathology / Female / Frontotemporal Dementia:
                      pathology / Frontotemporal Dementia: genetics /
                      Frontotemporal Dementia: metabolism / Aged / Middle Aged /
                      Transcriptome / DNA-Binding Proteins (NLM Chemicals) /
                      TARDBP protein, human (NLM Chemicals)},
      cin          = {AG Danzer / Clinical Study Center (Ulm)},
      ddc          = {500},
      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:41803120},
      doi          = {10.1038/s41467-026-69944-6},
      url          = {https://pub.dzne.de/record/285638},
}