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@ARTICLE{Falck:151528,
      author       = {Falck, Joanne and Bruns, Christine and Hoffmann, Sheila
                      Sook-Hi and Straub, Isabelle and Plautz, Erik J. and
                      Orlando, Marta and Munawar, Humaira and Rivalan, Marion and
                      Winter, York and Izsvák, Zsuzsanna and Schmitz, Dietmar and
                      Hamra, F. Kent and Hallermann, Stefan and Garner, Craig
                      Curtis and Ackermann, Frauke},
      title        = {{L}oss of {P}iccolo {F}unction in {R}ats {I}nduces
                      {C}erebellar {N}etwork {D}ysfunction and {P}ontocerebellar
                      {H}ypoplasia {T}ype 3-like {P}henotypes},
      journal      = {The journal of neuroscience},
      volume       = {40},
      number       = {14},
      issn         = {0270-6474},
      address      = {Washington, DC},
      publisher    = {Soc.8825},
      reportid     = {DZNE-2020-01112},
      pages        = {2943-2959},
      year         = {2020},
      abstract     = {Piccolo, a presynaptic active zone protein, is best known
                      for its role in the regulated assembly and function of
                      vertebrate synapses. Genetic studies suggest a further link
                      to several psychiatric disorders as well as Pontocerebellar
                      Hypoplasia type 3 (PCH3). We have characterized recently
                      generated Piccolo KO (Pclogt/gt) rats. Analysis of rats of
                      both sexes revealed a dramatic reduction in brain size
                      compared with WT (Pclowt/wt) animals, attributed to a
                      decrease in the size of the cerebral cortical, cerebellar,
                      and pontine regions. Analysis of the cerebellum and
                      brainstem revealed a reduced granule cell layer and a
                      reduction in size of pontine nuclei. Moreover, the
                      maturation of mossy fiber afferents from pontine neurons and
                      the expression of the α6 GABAA receptor subunit at the
                      mossy fiber-granule cell synapse are perturbed, as well as
                      the innervation of Purkinje cells by cerebellar climbing
                      fibers. Ultrastructural and functional studies revealed a
                      reduced size of mossy fiber boutons, with fewer synaptic
                      vesicles and altered synaptic transmission. These data imply
                      that Piccolo is required for the normal development,
                      maturation, and function of neuronal networks formed between
                      the brainstem and cerebellum. Consistently, behavioral
                      studies demonstrated that adult Pclogt/gt rats display
                      impaired motor coordination, despite adequate performance in
                      tasks that reflect muscle strength and locomotion. Together,
                      these data suggest that loss of Piccolo function in patients
                      with PCH3 could be involved in many of the observed
                      anatomical and behavioral symptoms, and that the further
                      analysis of these animals could provide fundamental
                      mechanistic insights into this devastating disorder.},
      keywords     = {Animals / Cerebellum: metabolism / Cerebellum: pathology /
                      Cerebellum: physiopathology / Cytoskeletal Proteins:
                      metabolism / Disease Models, Animal / Female / Gene Knockout
                      Techniques / Male / Neuropeptides: metabolism /
                      Olivopontocerebellar Atrophies / Phenotype / Rats},
      cin          = {AG Garner / AG Ackermann},
      ddc          = {610},
      cid          = {I:(DE-2719)1810001 / I:(DE-2719)1813004},
      pnm          = {341 - Molecular Signaling (POF3-341)},
      pid          = {G:(DE-HGF)POF3-341},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC7117892},
      pubmed       = {pmid:32122952},
      doi          = {10.1523/JNEUROSCI.2316-19.2020},
      url          = {https://pub.dzne.de/record/151528},
}