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Document type:
journal article 
Author(s):
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; Hrab? de Angelis, Martin; Groll, Michael; Busch, Dirk H 
Title:
Defective immuno- and thymoproteasome assembly causes severe immunodeficiency. 
Abstract:
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 ?2i-subunit of the immuno- and thymoproteasome. Yeast mutagenesis and crystallographic data suggest...    »
 
Journal title abbreviation:
Sci Rep 
Year:
2018 
Journal volume:
Journal issue:
Pages contribution:
5975 
Language:
eng 
TUM Institution:
Institut für Medizinische Mikrobiologie, Immunologie und Hygiene