Article

Missense mutations in the MLKL ‘brace’ region lead to lethal neonatal inflammation in mice and are present in high frequency in humans

2019-05-15

Abstract excerpt

<h4>SUMMARY</h4> We have isolated a mouse strain with a single missense mutation in the gene encoding MLKL, the essential effector of necroptotic cell death. The resulting substitution lies within the two-helix ‘brace’ and confers constitutive, RIPK3 independent, killing activity to MLKL. Mice homozygous for Mlkl D139V develop lethal inflammation within days of birth, implicating the salivary glands and pericar...

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Literature Corpus work: 7bc95da4-7b3f-58cd-9a32-89fec0f9d87d
DOI: 10.1101/628370

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