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@ARTICLE{Messelodi:257582,
      author       = {Messelodi, Daria and Strocchi, Silvia and Bertuccio,
                      Salvatore Nicola and Baden, Pascale and Indio, Valentina and
                      Giorgi, Federico M and Taddia, Alberto and Serravalle,
                      Salvatore and Valente, Sabrina and di Fonzo, Alessio and
                      Frattini, Emanuele and Bernardoni, Roberto and Pession,
                      Annalisa and Grifoni, Daniela and Deleidi, Michela and
                      Astolfi, Annalisa and Pession, Andrea},
      title        = {{N}euronopathic {G}aucher disease models reveal defects in
                      cell growth promoted by {H}ippo pathway activation.},
      journal      = {Communications biology},
      volume       = {6},
      number       = {1},
      issn         = {2399-3642},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2023-00458},
      pages        = {431},
      year         = {2023},
      abstract     = {Gaucher Disease (GD), the most common lysosomal disorder,
                      arises from mutations in the GBA1 gene and is characterized
                      by a wide spectrum of phenotypes, ranging from mild
                      hematological and visceral involvement to severe
                      neurological disease. Neuronopathic patients display
                      dramatic neuronal loss and increased neuroinflammation,
                      whose molecular basis are still unclear. Using a combination
                      of Drosophila dGBA1b loss-of-function models and GD
                      patient-derived iPSCs differentiated towards neuronal
                      precursors and mature neurons we showed that different GD-
                      tissues and neuronal cells display an impairment of growth
                      mechanisms with an increased cell death and reduced
                      proliferation. These phenotypes are coupled with the
                      downregulation of several Hippo transcriptional targets,
                      mainly involved in cells and tissue growth, and YAP
                      exclusion from nuclei. Interestingly, Hippo knock-down in
                      the GBA-KO flies rescues the proliferative defect,
                      suggesting that targeting the Hippo pathway can be a
                      promising therapeutic approach to neuronopathic GD.},
      keywords     = {Humans / Gaucher Disease: genetics / Gaucher Disease:
                      metabolism / Gaucher Disease: therapy / Glucosylceramidase:
                      genetics / Glucosylceramidase: metabolism / Hippo Signaling
                      Pathway / Neurons: metabolism / Cell Proliferation /
                      Glucosylceramidase (NLM Chemicals)},
      cin          = {AG Deleidi},
      ddc          = {570},
      cid          = {I:(DE-2719)1210011},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC10115838},
      pubmed       = {pmid:37076591},
      doi          = {10.1038/s42003-023-04813-2},
      url          = {https://pub.dzne.de/record/257582},
}