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@ARTICLE{Bauer:165352,
      author       = {Bauer, Susanne and Dittrich, Lars and Kaczmarczyk, Lech and
                      Schleif, Melvin and Benfeitas, Rui and Jackson, Walker Scot},
      title        = {{T}ranslatome profiling in fatal familial insomnia
                      implicates {TOR} signaling in somatostatin neurons.},
      journal      = {Life science alliance},
      volume       = {5},
      number       = {11},
      issn         = {2575-1077},
      address      = {Heidelberg},
      publisher    = {EMBO Press},
      reportid     = {DZNE-2022-01629},
      pages        = {e202201530},
      year         = {2022},
      abstract     = {Selective neuronal vulnerability is common in
                      neurodegenerative diseases but poorly understood. In genetic
                      prion diseases, including fatal familial insomnia (FFI) and
                      Creutzfeldt-Jakob disease (CJD), different mutations in the
                      Prnp gene manifest as clinically and neuropathologically
                      distinct diseases. Here we report with
                      electroencephalography studies that theta waves are mildly
                      increased in 21 mo old knock-in mice modeling FFI and CJD
                      and that sleep is mildy affected in FFI mice. To define
                      affected cell types, we analyzed cell type-specific
                      translatomes from six neuron types of 9 mo old FFI and CJD
                      mice. Somatostatin (SST) neurons responded the strongest in
                      both diseases, with unexpectedly high overlap in genes and
                      pathways. Functional analyses revealed up-regulation of
                      neurodegenerative disease pathways and ribosome and
                      mitochondria biogenesis, and down-regulation of synaptic
                      function and small GTPase-mediated signaling in FFI,
                      implicating down-regulation of mTOR signaling as the root of
                      these changes. In contrast, responses in glutamatergic
                      cerebellar neurons were disease-specific. The high
                      similarity in SST neurons of FFI and CJD mice suggests that
                      a common therapy may be beneficial for multiple genetic
                      prion diseases.},
      keywords     = {Animals / Creutzfeldt-Jakob Syndrome: genetics / Insomnia,
                      Fatal Familial: genetics / Mice / Monomeric GTP-Binding
                      Proteins: metabolism / Neurodegenerative Diseases / Neurons:
                      metabolism / Prion Diseases: genetics / Somatostatin:
                      genetics / Somatostatin: metabolism / TOR Serine-Threonine
                      Kinases: genetics / TOR Serine-Threonine Kinases: metabolism
                      / Somatostatin (NLM Chemicals) / TOR Serine-Threonine
                      Kinases (NLM Chemicals) / Monomeric GTP-Binding Proteins
                      (NLM Chemicals)},
      cin          = {AG Jackson},
      ddc          = {570},
      cid          = {I:(DE-2719)1013019},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36192034},
      pmc          = {pmc:PMC9531780},
      doi          = {10.26508/lsa.202201530},
      url          = {https://pub.dzne.de/record/165352},
}