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Titel:

Defective immuno- and thymoproteasome assembly causes severe immunodeficiency.

Dokumenttyp:
Journal Article
Autor(en):
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
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 β2i-subunit of the immuno- and thymoproteasome. Yeast mutagenesis and crystallographic data suggest...     »
Zeitschriftentitel:
Sci Rep
Jahr:
2018
Band / Volume:
8
Heft / Issue:
1
Seitenangaben Beitrag:
5975
Sprache:
eng
Volltext / DOI:
doi:10.1038/s41598-018-24199-0
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29654304
Print-ISSN:
2045-2322
TUM Einrichtung:
Institut für Humangenetik; Institut für Medizinische Mikrobiologie, Immunologie und Hygiene
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