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@ARTICLE{Winkler:167466,
      author       = {M. Winkler and S. Biswas and S. M. Berger and M. Küchler
                      and L. Preisendörfer and M. Choo and S. Früh and P. D. Rem
                      and T. Enkel and B. Arnold$^*$ and D. Komljenovic$^*$ and C.
                      Sticht and S. Goerdt and B. Bettler and O. von Bohlen Und
                      Halbach and D. Bartsch and C. Géraud},
      title        = {{P}ianp deficiency links {GABAB} receptor signaling and
                      hippocampal and cerebellar neuronal cell composition to
                      autism-like behavior.},
      journal      = {Molecular psychiatry},
      volume       = {25},
      number       = {11},
      issn         = {1476-5578},
      address      = {London},
      publisher    = {Macmillan},
      reportid     = {DKFZ-2021-00369},
      pages        = {2979 - 2993},
      year         = {2020},
      note         = {Division of Molecular Immunology, Arnold},
      abstract     = {Pianp (also known as Leda-1) is a type I transmembrane
                      protein with preferential expression in the mammalian CNS.
                      Its processing is characterized by proteolytic cleavage by a
                      range of proteases including Adam10, Adam17, MMPs, and the
                      γ-secretase complex. Pianp can interact with Pilrα and the
                      GB1a subunit of the GABAB receptor (GBR) complex. A recent
                      case description of a boy with global developmental delay
                      and homozygous nonsense variant in PIANP supports the
                      hypothesis that PIANP is involved in the control of
                      behavioral traits in mammals. To investigate the
                      physiological functions of Pianp, constitutive, global
                      knockout mice were generated and comprehensively analyzed.
                      Broad assessment did not indicate malformation or
                      malfunction of internal organs. In the brain, however,
                      decreased sizes and altered cellular compositions of the
                      dentate gyrus as well as the cerebellum, including a lower
                      number of cerebellar Purkinje cells, were identified.
                      Functionally, loss of Pianp led to impaired presynaptic
                      GBR-mediated inhibition of glutamate release and altered
                      gene expression in the cortex, hippocampus, amygdala, and
                      hypothalamus including downregulation of Erdr1, a gene
                      linked to autism-like behavior. Behavioral phenotyping
                      revealed that Pianp deficiency leads to context-dependent
                      enhanced anxiety and spatial learning deficits, an altered
                      stress response, severely impaired social interaction, and
                      enhanced repetitive behavior, which all represent
                      characteristic features of an autism spectrum disorder-like
                      phenotype. Altogether, Pianp represents a novel candidate
                      gene involved in autism-like behavior, cerebellar and
                      hippocampal pathology, and GBR signaling.},
      cin          = {D050 / E020},
      ddc          = {610},
      cid          = {I:(DE-He78)D050-20160331 / I:(DE-He78)E020-20160331},
      pnm          = {315 - Imaging and radiooncology (POF3-315)},
      pid          = {G:(DE-HGF)POF3-315},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31511635},
      pmc          = {pmc:PMC7577901},
      doi          = {10.1038/s41380-019-0519-9},
      url          = {https://inrepo02.dkfz.de/record/167466},
}