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@ARTICLE{Kovermann:874374,
      author       = {Kovermann, Peter and Untiet, Verena and Kolobkova, Yulia
                      and Engels, Miriam and Baader, Stephan and Schilling, Karl
                      and Fahlke, Christoph},
      title        = {{I}ncreased glutamate transporter-associated anion currents
                      cause glial apoptosis in episodic ataxia 6},
      journal      = {Brain communications},
      volume       = {2},
      number       = {1},
      issn         = {2632-1297},
      address      = {[Großbritannien]},
      publisher    = {Guarantors of Brain},
      reportid     = {FZJ-2020-01396},
      pages        = {fcaa022},
      year         = {2020},
      abstract     = {Episodic ataxia type 6 is an inherited neurological
                      condition characterized by combined ataxia and epilepsy. A
                      severe form of this disease with episodes combining ataxia,
                      epilepsy and hemiplegia was recently associated with a
                      proline to arginine substitution at position 290 of the
                      excitatory amino acid transporter 1 in a heterozygous
                      patient. The excitatory amino acid transporter 1 is the
                      predominant glial glutamate transporter in the cerebellum.
                      However, this glutamate transporter also functions as an
                      anion channel and earlier work in heterologous expression
                      systems demonstrated that the mutation impairs the glutamate
                      transport rate, while increasing channel activity. To
                      understand how these changes cause ataxia, we developed a
                      constitutive transgenic mouse model. Transgenic mice display
                      epilepsy, ataxia and cerebellar atrophy and, thus, closely
                      resemble the human disease. We observed increased
                      glutamate-activated chloride efflux in Bergmann glia that
                      triggers the apoptosis of these cells during infancy. The
                      loss of Bergmann glia results in reduced glutamate uptake
                      and impaired neural network formation in the cerebellar
                      cortex. This study shows how gain-of-function of glutamate
                      transporter-associated anion channels causes ataxia through
                      modifying cerebellar development.},
      cin          = {ICS-4},
      ddc          = {610},
      cid          = {I:(DE-Juel1)ICS-4-20110106},
      pnm          = {553 - Physical Basis of Diseases (POF3-553)},
      pid          = {G:(DE-HGF)POF3-553},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32954283},
      UT           = {WOS:000574931600022},
      doi          = {10.1093/braincomms/fcaa022},
      url          = {https://juser.fz-juelich.de/record/874374},
}