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@ARTICLE{Yildiz:264182,
      author       = {Yildiz, Berra and Schiedt, Lisa and Mulaw, Medhanie and
                      Bockmann, Jürgen and Jesse, Sarah and Lutz, Anne-Kathrin
                      and Boeckers, Tobias M},
      title        = {{S}hank3 related muscular hypotonia is accompanied by
                      increased intracellular calcium concentrations and ion
                      channel dysregulation in striated muscle tissue.},
      journal      = {Frontiers in cell and developmental biology},
      volume       = {11},
      issn         = {2296-634X},
      address      = {Lausanne},
      publisher    = {Frontiers Media},
      reportid     = {DZNE-2023-00962},
      pages        = {1243299},
      year         = {2023},
      abstract     = {Phelan-McDermid syndrome (PMS) is a syndromic form of
                      Autism Spectrum Disorders (ASD) classified as a rare genetic
                      neurodevelopmental disorder featuring global developmental
                      delay, absent or delayed speech, ASD-like behaviour and
                      neonatal skeletal muscle hypotonia. PMS is caused by a
                      heterozygous deletion of the distal end of chromosome
                      22q13.3 or SHANK3 mutations. We analyzed striated muscles of
                      newborn Shank3Δ11(-/-) animals and found a significant
                      enlargement of the sarcoplasmic reticulum as previously seen
                      in adult Shank3Δ11(-/-) mice, indicative of a
                      Shank3-dependent and not compensatory mechanism for this
                      structural alteration. We analyzed transcriptional
                      differences by RNA-sequencing of muscle tissue of neonatal
                      Shank3Δ11(-/-) mice and compared those to Shank3(+/+)
                      controls. We found significant differences in gene
                      expression of ion channels crucial for muscle contraction
                      and for molecules involved in calcium ion regulation. In
                      addition, calcium storage- [i.e., Calsequestrin (CSQ)],
                      calcium secretion- and calcium-related signaling-proteins
                      were found to be affected. By immunostainings and Western
                      blot analyses we could confirm these findings both in
                      Shank3Δ11(-/-) mice and PMS patient muscle tissue.
                      Moreover, alterations could be induced in vitro by the
                      selective downregulation of Shank3 in C2C12 myotubes. Our
                      results emphasize that SHANK3 levels directly or indirectly
                      regulate calcium homeostasis in a cell autonomous manner
                      that might contribute to muscular hypotonia especially seen
                      in the newborn.},
      keywords     = {ASD (Other) / RNA-sequencing (Other) / Shank3 (Other) /
                      immunohistochemistry (Other) / muscular hypotonia (Other) /
                      neurodevelopmental disorders (Other) / western blot (Other)},
      cin          = {AG Böckers},
      ddc          = {570},
      cid          = {I:(DE-2719)1910002},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37745298},
      pmc          = {pmc:PMC10511643},
      doi          = {10.3389/fcell.2023.1243299},
      url          = {https://pub.dzne.de/record/264182},
}