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@ARTICLE{Yasa:272858,
      author       = {Yasa, Seda and Butz, Elisabeth and Colombo, Alessio
                      Vittorio and Chandrachud, Uma and Montore, Luca and
                      Tschirner, Sarah and Prestel, Matthias and Sheridan, Steven
                      D and Müller, Stephan A and Groh, Janos and Lichtenthaler,
                      Stefan F and Tahirovic, Sabina and Cotman, Susan L},
      title        = {{L}oss of {CLN}3 in microglia leads to impaired lipid
                      metabolism and myelin turnover.},
      journal      = {Communications biology},
      volume       = {7},
      number       = {1},
      issn         = {2399-3642},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2024-01276},
      pages        = {1373},
      year         = {2024},
      abstract     = {Loss-of-function mutations in CLN3 cause juvenile Batten
                      disease, featuring neurodegeneration and early-stage
                      neuroinflammation. How loss of CLN3 function leads to early
                      neuroinflammation is not yet understood. Here, we have
                      comprehensively studied microglia from Cln3∆ex7/8 mice, a
                      genetically accurate disease model. Loss of CLN3 function in
                      microglia leads to lysosomal storage material accumulation
                      and abnormal morphology of subcellular organelles. Moreover,
                      pathological proteomic signatures are indicative of defects
                      in lysosomal function and abnormal lipid metabolism.
                      Consistent with these findings, CLN3-deficient microglia are
                      unable to efficiently turnover myelin and metabolize the
                      associated lipids, showing defects in lipid droplet
                      formation and cholesterol accumulation. Accordingly, we also
                      observe impaired myelin integrity in aged Cln3∆ex7/8 mouse
                      brain. Autophagy inducers and cholesterol-lowering drugs
                      correct the observed microglial phenotypes. Taken together,
                      these data implicate a cell-autonomous defect in
                      CLN3-deficient microglia that impacts their ability to
                      support neuronal cell health, suggesting microglial targeted
                      therapies should be considered for CLN3 disease.},
      keywords     = {Animals / Microglia: metabolism / Microglia: pathology /
                      Membrane Glycoproteins: metabolism / Membrane Glycoproteins:
                      genetics / Lipid Metabolism / Mice / Molecular Chaperones:
                      metabolism / Molecular Chaperones: genetics / Myelin Sheath:
                      metabolism / Neuronal Ceroid-Lipofuscinoses: metabolism /
                      Neuronal Ceroid-Lipofuscinoses: genetics / Neuronal
                      Ceroid-Lipofuscinoses: pathology / Mice, Knockout /
                      Lysosomes: metabolism / Mice, Inbred C57BL / Autophagy /
                      Membrane Glycoproteins (NLM Chemicals) / CLN3 protein, mouse
                      (NLM Chemicals) / Molecular Chaperones (NLM Chemicals)},
      cin          = {AG Tahirovic / AG Lichtenthaler},
      ddc          = {570},
      cid          = {I:(DE-2719)1140003 / I:(DE-2719)1110006},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39438652},
      pmc          = {pmc:PMC11496662},
      doi          = {10.1038/s42003-024-07057-w},
      url          = {https://pub.dzne.de/record/272858},
}