Article

Increased core body temperature exacerbates defective protein prenylation in mouse avatars of mevalonate kinase deficiency

2022-03-02

Abstract excerpt

<h4>SUMMARY</h4> Mevalonate kinase deficiency (MKD) is caused by biallelic loss-of-function mutations in MVK , leading to recurrent fevers and systemic inflammation. We describe new mouse avatars of MKD bearing p.Val377Ile (the commonest variant) or deletions in Mvk . Compound heterozygous mice recapitulated the biochemical phenotype of MKD, with build-up of unprenylated GTPases and increased plasma mevalonic a...

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Literature Corpus work: 35e818d8-2805-5127-9077-ed987f1151d0
DOI: 10.1101/2022.02.28.480959

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