Defective immuno- and thymoproteasome assembly causes severe immunodeficiency

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...

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Publicado en:Sci Rep
Main Authors: Treise, Irina, Huber, Eva M., Klein-Rodewald, Tanja, Heinemeyer, Wolfgang, Grassmann, Simon A., Basler, Michael, Adler, Thure, Rathkolb, Birgit, Helming, Laura, Andres, Christian, Klaften, Matthias, Landbrecht, Christina, Wieland, Thomas, Strom, Tim M., McCoy, Kathy D., Macpherson, Andrew J., Wolf, Eckhard, Groettrup, Marcus, Ollert, Markus, Neff, Frauke, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Groll, Michael, Busch, Dirk H.
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5899138/
https://ncbi.nlm.nih.gov/pubmed/29654304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-24199-0
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