@article{Treise2018-04-13Defec-42174,
  year={2018},
  doi={10.1038/s41598-018-24199-0},
  title={Defective immuno- and thymoproteasome assembly causes severe immunodeficiency},
  number={1},
  volume={8},
  journal={Scientific reports},
  author={Treise, Irina and Huber, Eva M. and Klein-Rodewald, Tanja and Heinemeyer, Wolfgang and Grassmann, Simon A. and Basler, Michael and Adler, Thure and Gröttrup, Marcus and Groll, Michael and Busch, Dirk H.},
  note={Article Number: 5975}
}

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    <dc:creator>Groll, Michael</dc:creator>
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    <dc:contributor>Grassmann, Simon A.</dc:contributor>
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    <dc:creator>Huber, Eva M.</dc:creator>
    <dc:creator>Adler, Thure</dc:creator>
    <dc:contributor>Huber, Eva M.</dc:contributor>
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    <dc:contributor>Gröttrup, Marcus</dc:contributor>
    <dc:contributor>Heinemeyer, Wolfgang</dc:contributor>
    <dc:creator>Basler, Michael</dc:creator>
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    <dcterms:title>Defective immuno- and thymoproteasome assembly causes severe immunodeficiency</dcterms:title>
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    <dcterms:abstract xml:lang="eng">By N-ethyl-N-nitrosourea (ENU) mutagenesis, we generated the mutant mouse line TUB6 that is characterised by severe combined immunodeficiency (SCID) and systemic sterile autoinflammation in homozygotes, and a selective T cell defect in heterozygotes. The causative missense point mutation results in the single amino acid exchange G170W in multicatalytic endopeptidase complex subunit-1 (MECL-1), the β2i-subunit of the immuno- and thymoproteasome. Yeast mutagenesis and crystallographic data suggest that the severe TUB6-phenotype compared to the MECL-1 knockout mouse is caused by structural changes in the C-terminal appendage of β2i that prevent the biogenesis of immuno- and thymoproteasomes. Proteasomes are essential for cell survival, and defective proteasome assembly causes selective death of cells expressing the mutant MECL-1, leading to the severe immunological phenotype. In contrast to the immunosubunits β1i (LMP2) and β5i (LMP7), mutations in the gene encoding MECL-1 have not yet been assigned to human disorders. The TUB6 mutant mouse line exemplifies the involvement of MECL-1 in immunopathogenesis and provides the first mouse model for primary immuno- and thymoproteasome-associated immunodeficiency that may also be relevant in humans.</dcterms:abstract>
    <dc:creator>Heinemeyer, Wolfgang</dc:creator>
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    <dc:creator>Treise, Irina</dc:creator>
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    <dc:contributor>Klein-Rodewald, Tanja</dc:contributor>
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