Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency

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Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

Mevalonate kinase deficiency (MKD) is caused by mutations in a key enzyme of the mevalonate-cholesterol biosynthesis pathway, leading to recurrent autoinflammatory disease characterised by enhanced release of interleukin-1β (IL-1β). It is currently believed that the inflammatory phenotype of MKD is triggered by temperature-sensitive loss of mevalonate kinase activity and reduced biosynthesis of...

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Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and m...

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OR11-001 - Protein misfolding in mevalonate kinase deficiency

Methods Recombinant wild-type (WT) and variant MK proteins N-terminally fused to a maltose binding protein (MBP) were expressed in E. coli. Following affinity purification and size exclusion chromatography, the MBP-MK fusion (fMK) or cleaved MK (cMK) proteins, respectively, were characterized with regard to oligomerization, thermal unfolding monitored by differential scanning fluorimetry, therm...

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Interleukin-1 antagonists in Mevalonate Kinase Deficiency

Background Mevalonate Kinase Deficiency (MKD) is one of the autoinflammatory fever syndromes, caused by mutations in the MKD gene. Systemic inflammatory symptoms may be mild to severe leading to early death, and recurrent bacterial infections frequently develop in the disease course. On demand NSAID and steroids are the most commonly used. Few case-reports suggested that interleukin-1 (IL-1) an...

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Putative modifier genes in mevalonate kinase deficiency.

Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway. Although the molecular mechanism remains to be elucidated, there is clinical evidence suggesting that other regulatory genes may be involved in determining the phenotype. The identification of novel target genes may explain non‑homogeneous genotype‑phenotype co...

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ژورنال

عنوان ژورنال: Journal of Allergy and Clinical Immunology

سال: 2017

ISSN: 0091-6749

DOI: 10.1016/j.jaci.2017.02.033