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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Vydáno v:Sci Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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Article
On-line přístup: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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