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- W2801659421 abstract "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 that the severe TUB6-phenotype compared to the MECL-1 knockout mouse is caused by structural changes in the C-terminal appendage of β2i that prevent the biogenesis of immuno- and thymoproteasomes. Proteasomes are essential for cell survival, and defective proteasome assembly causes selective death of cells expressing the mutant MECL-1, leading to the severe immunological phenotype. In contrast to the immunosubunits β1i (LMP2) and β5i (LMP7), mutations in the gene encoding MECL-1 have not yet been assigned to human disorders. The TUB6 mutant mouse line exemplifies the involvement of MECL-1 in immunopathogenesis and provides the first mouse model for primary immuno- and thymoproteasome-associated immunodeficiency that may also be relevant in humans." @default.
- W2801659421 created "2018-05-17" @default.
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- W2801659421 date "2018-04-13" @default.
- W2801659421 modified "2023-10-17" @default.
- W2801659421 title "Defective immuno- and thymoproteasome assembly causes severe immunodeficiency" @default.
- W2801659421 cites W1490867178 @default.
- W2801659421 cites W1526346536 @default.
- W2801659421 cites W1789511037 @default.
- W2801659421 cites W1839456870 @default.
- W2801659421 cites W1851733051 @default.
- W2801659421 cites W1965790877 @default.
- W2801659421 cites W1968047575 @default.
- W2801659421 cites W1969894269 @default.
- W2801659421 cites W1973138306 @default.
- W2801659421 cites W1977266560 @default.
- W2801659421 cites W1977642690 @default.
- W2801659421 cites W1986412656 @default.
- W2801659421 cites W1999119754 @default.
- W2801659421 cites W2005507128 @default.
- W2801659421 cites W2010920001 @default.
- W2801659421 cites W2015778512 @default.
- W2801659421 cites W2016151751 @default.
- W2801659421 cites W2017082201 @default.
- W2801659421 cites W2018971939 @default.
- W2801659421 cites W2035101626 @default.
- W2801659421 cites W2037926296 @default.
- W2801659421 cites W2040801939 @default.
- W2801659421 cites W2041617144 @default.
- W2801659421 cites W2042851093 @default.
- W2801659421 cites W2046139844 @default.
- W2801659421 cites W2047237743 @default.
- W2801659421 cites W2047476050 @default.
- W2801659421 cites W2051352279 @default.
- W2801659421 cites W2057138015 @default.
- W2801659421 cites W2058156851 @default.
- W2801659421 cites W2060582345 @default.
- W2801659421 cites W2066635545 @default.
- W2801659421 cites W2066779357 @default.
- W2801659421 cites W2067910590 @default.
- W2801659421 cites W2070801351 @default.
- W2801659421 cites W2073269504 @default.
- W2801659421 cites W2074495794 @default.
- W2801659421 cites W2077147012 @default.
- W2801659421 cites W2078328888 @default.
- W2801659421 cites W2081183338 @default.
- W2801659421 cites W2084843323 @default.
- W2801659421 cites W2091512138 @default.
- W2801659421 cites W2102683915 @default.
- W2801659421 cites W2105445844 @default.
- W2801659421 cites W2109801310 @default.
- W2801659421 cites W2119489910 @default.
- W2801659421 cites W2121157101 @default.
- W2801659421 cites W2122515314 @default.
- W2801659421 cites W2123962198 @default.
- W2801659421 cites W2124026197 @default.
- W2801659421 cites W2126391194 @default.
- W2801659421 cites W2130960197 @default.
- W2801659421 cites W2131609927 @default.
- W2801659421 cites W2134505828 @default.
- W2801659421 cites W2152231771 @default.
- W2801659421 cites W2157579823 @default.
- W2801659421 cites W2162403248 @default.
- W2801659421 cites W2163341755 @default.
- W2801659421 cites W2170035883 @default.
- W2801659421 cites W2170342761 @default.
- W2801659421 cites W2296709801 @default.
- W2801659421 cites W2499879315 @default.
- W2801659421 cites W2620221170 @default.
- W2801659421 cites W2794626181 @default.
- W2801659421 cites W4211253912 @default.
- W2801659421 cites W4248872320 @default.
- W2801659421 doi "https://doi.org/10.1038/s41598-018-24199-0" @default.
- W2801659421 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5899138" @default.
- W2801659421 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29654304" @default.
- W2801659421 hasPublicationYear "2018" @default.