EC Number   |
Application |
Reference |
|---|
    2.7.1.36 | diagnostics |
mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, and are an appropriate marker for the disease |
709706 |
| 2.7.1.36 | medicine |
case study of patients with mevalonic aciduria. Patients display high urinary excretion of mevalonic acid. After the second year of life they developed mental retardation, ataxia and hypotonia as well as cerebellar atrophy of both hemispheres and vermis |
693486 |
| 2.7.1.36 | medicine |
clinical relevance of the measurement of IgD for diagnosis of mevalonate kinase deficiency is poor |
695100 |
| 2.7.1.36 | medicine |
inhibition of HMG-CoA reductase by simvastatin treatment of LPS-stimulated peripheral blood mononuclear cells mimicks mevalonate kinase deficiency and results in increased interleukin-1beta secretion in Rac1/phosphatidylinositol-3 kinase-dependent manner. Results suggest that in mevalonate kinase deficiency, dysregulated isoprenoid biosynthesis activates Rac1/phosphatidylinositol-3 kinase/PKB resulting in caspase-1 activation with increased interleukin-1beta processing and release. Inhibition of Rac1 in LPS-stimulated peripheral blood mononuclear cells from patients with mevalonate kinase deficiency results in dramatic reduction in interleukin-1beta release |
691461 |
| 2.7.1.36 | medicine |
inhibition of the isoprenoid pathway results in a dose-dependent reduction of amyloid formed. The inhibitory effects of lovastatin are reversible by addition of farnesol but not geranylgeraniol. Farnesyl transferase inhibition also inhibits amyloidogenesis |
693507 |
| 2.7.1.36 | medicine |
luteinizing hormone receptor mRNA is up-regulated due to increased stability when estrogen negatively controls mevalonate kinase |
692079 |
| 2.7.1.36 | medicine |
mouse model for typical mevalonate kinase deficiency can be obtained by treatment of BALB/c mice with aminobisphosphonate alendronate and bacterial muramyldipeptide. Exogenous isoprenoids geraniol, farnesol and geranylgeraniol are effective in prevention of the inflammation induced by alendronate/muramyldipeptide |
694550 |
| 2.7.1.36 | medicine |
no significant correlation between mutations in the mevalonate kinase gene and Behcet's disease. Of 97 patients, two had paired mutations in the mevalonate kinase gene and displayed typical features of Behcet's disease and mevalonate kinase deficiency |
690444 |
| 2.7.1.36 | medicine |
patient with hyperimmunoglobulinemia D due to mutations of the gene coding for mevalonatekinase, and periodic fever syndrome. Treatment with etanercept with a dose of 0.8 mg/kg per week results in great improvement of both attacks and acute-phase response but with still persistent massive hepatosplenomegaly |
691885 |
| 2.7.1.36 | medicine |
patient with mevalonate kinase deficiency due to mutation Q390P and a four-base deletion c.475-478 delACTG. Patient shows high serum immunoglobulin D, elevated mevalonaciduria and low mevalonate kinase activity in lymphocytes. Patient was treated with subcutaneous doses of anakinra. Most disease manifestations regressed dramatically and no new flares have occurred |
695101 |
