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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899138/
https://www.ncbi.nlm.nih.gov/pubmed/29654304
http://dx.doi.org/10.1038/s41598-018-24199-0

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