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@ARTICLE{Kettwig:163450,
      author       = {Kettwig, Matthias and Ternka, Katharina and Wendland,
                      Kristin and Krüger, Dennis Manfred and Zampar, Silvia and
                      Schob, Charlotte and Franz, Jonas and Aich, Abhishek and
                      Winkler, Anne and Sakib, M Sadman and Kaurani, Lalit and
                      Epple, Robert and Werner, Hauke B and Hakroush, Samy and
                      Kitz, Julia and Prinz, Marco and Bartok, Eva and Hartmann,
                      Gunther and Schröder, Simone and Rehling, Peter and
                      Henneke, Marco and Boretius, Susann and Alia, A. and Wirths,
                      Oliver and Fischer, Andre and Stadelmann, Christine and
                      Nessler, Stefan and Gärtner, Jutta},
      title        = {{I}nterferon-driven brain phenotype in a mouse model of
                      {RN}ase{T}2 deficient leukoencephalopathy.},
      journal      = {Nature Communications},
      volume       = {12},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DZNE-2022-00210},
      pages        = {6530},
      year         = {2021},
      note         = {(CC BY)},
      abstract     = {Infantile-onset RNaseT2 deficient leukoencephalopathy is
                      characterised by cystic brain lesions, multifocal white
                      matter alterations, cerebral atrophy, and severe psychomotor
                      impairment. The phenotype is similar to congenital
                      cytomegalovirus brain infection and overlaps with type I
                      interferonopathies, suggesting a role for innate immunity in
                      its pathophysiology. To date, pathophysiological studies
                      have been hindered by the lack of mouse models
                      recapitulating the neuroinflammatory encephalopathy found in
                      patients. In this study, we generated Rnaset2-/- mice using
                      CRISPR/Cas9-mediated genome editing. Rnaset2-/- mice
                      demonstrate upregulation of interferon-stimulated genes and
                      concurrent IFNAR1-dependent neuroinflammation, with
                      infiltration of CD8+ effector memory T cells and
                      inflammatory monocytes into the grey and white matter.
                      Single nuclei RNA sequencing reveals homeostatic
                      dysfunctions in glial cells and neurons and provide
                      important insights into the mechanisms of
                      hippocampal-accentuated brain atrophy and cognitive
                      impairment. The Rnaset2-/- mice may allow the study of CNS
                      damage associated with RNaseT2 deficiency and may be used
                      for the investigation of potential therapies.},
      keywords     = {Animals / CD8-Positive T-Lymphocytes: metabolism /
                      Cognitive Dysfunction: genetics / Cognitive Dysfunction:
                      metabolism / Disease Models, Animal / Endoribonucleases:
                      genetics / Endoribonucleases: metabolism / Female / Flow
                      Cytometry / Genotype / Humans / Immunohistochemistry /
                      Leukoencephalopathies: genetics / Leukoencephalopathies:
                      metabolism / Leukoencephalopathies: pathology / Magnetic
                      Resonance Imaging / Male / Memory T Cells: metabolism / Mice
                      / Mice, Knockout / Neuroglia: metabolism / Real-Time
                      Polymerase Chain Reaction / Endoribonucleases (NLM
                      Chemicals)},
      cin          = {Bioinformatics and Genome Dynamics Core / AG Fischer},
      ddc          = {500},
      cid          = {I:(DE-2719)1440016 / I:(DE-2719)1410002},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34764281},
      pmc          = {pmc:PMC8586222},
      doi          = {10.1038/s41467-021-26880-x},
      url          = {https://pub.dzne.de/record/163450},
}