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@ARTICLE{Stalke:1008582,
      author       = {Stalke, Amelie and Behrendt, Annika and Hennig, Finja and
                      Gohlke, Holger and Buhl, Nicole and Reinkens, Thea and
                      Baumann, Ulrich and Schlegelberger, Brigitte and Illig,
                      Thomas and Pfister, Eva-Doreen and Skawran, Britta},
      title        = {{F}unctional characterization of novel or yet
                      uncharacterized {ATP}7{B} missense variants detected in
                      patients with clinical {W}ilson's disease},
      journal      = {Clinical genetics},
      volume       = {104},
      number       = {2},
      issn         = {0009-9163},
      address      = {Malden, Mass.},
      publisher    = {Wiley},
      reportid     = {FZJ-2023-02415},
      pages        = {174-185},
      year         = {2023},
      abstract     = {Wilson's disease (WD, MIM#277900) is an autosomal recessive
                      disorder resulting in copper excess caused by biallelic
                      variants in the ATP7B gene (MIM#606882) encoding a copper
                      transporting P-type ATPase. ATP7B variants of unknown
                      significance (VUS) are detected frequently, sometimes
                      impeding a clear diagnosis. Functional analyses can help to
                      classify these variants as benign or pathogenic.
                      Additionally, variants already classified as (likely)
                      pathogenic benefit from functional analyses to understand
                      their pathomechanism, thus contribute to the development of
                      personalized treatment approaches in the future. We
                      described clinical features of six WD patients and
                      functionally characterized five ATP7B missense variants (two
                      VUS, three yet uncharacterized likely pathogenic variants),
                      detected in these patients. We determined the protein level,
                      copper export capacity, and cellular localization in an in
                      vitro model and potential structural consequences using an
                      ATP7B protein model based on AlphaFold. Our analyses give
                      insight into the pathomechanism and allowed reclassification
                      for the two VUS to likely pathogenic and for two of the
                      three likely pathogenic variants to pathogenic},
      cin          = {IBG-4},
      ddc          = {610},
      cid          = {I:(DE-Juel1)IBG-4-20200403},
      pnm          = {2171 - Biological and environmental resources for
                      sustainable use (POF4-217) / DFG project 433387263 -
                      Next-Generation Sequencing und funktionelle
                      Charakterisierung von Varianten unklarer Signifikanz in
                      pädiatrischen Hepatopathien (433387263)},
      pid          = {G:(DE-HGF)POF4-2171 / G:(GEPRIS)433387263},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {37157876},
      UT           = {WOS:000985098200001},
      doi          = {10.1111/cge.14352},
      url          = {https://juser.fz-juelich.de/record/1008582},
}