Results 41 to 50 of about 12,260 (143)
Neurology, 2004 Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase.
Simon, A. +6 more
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Cellular Physiology and Biochemistry, 2017 Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be ...
Paola Maura Tricarico +4 more
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Frontiers in Immunology, 2021 Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway.
Hyery Kim +11 more
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Mevalonic Acid Kinase in Euglena gracilis [PDF]
Plant Physiology, 1967 The isolation and partial purification of mevalonic acid kinase from Euglena gracilis is described. The product of the reaction MVA-5-P has been characterized by paper chromatography. The apparent Km values for l-mevalonic acid, ATP, and Mg(2+) are 3 x 10(-5)m, 6 x 10(-3)m, and 9 x 10(-3)m, respectively.
C Z, Cooper, C R, Benedict
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Biomarker Research, 2018 Background Aggressive natural killer cell leukemia is a devastating disease, with an average patient survival time of less than 2 months following diagnosis.
Austin B. Henslee, Timothy A. Steele
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STAT3 and mutp53 Engage a Positive Feedback Loop Involving HSP90 and the Mevalonate Pathway
Frontiers in Oncology, 2020 Oncosuppressor TP53 and oncogene STAT3 have been shown to engage an interplay in which they negatively influence each other. Conversely, mutant (mut) p53 may sustain STAT3 phosphorylation by displacing SH2 phosphatase while whether STAT3 could influence ...
Maria Anele Romeo +11 more
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Identification of Catalytic Residues in Human Mevalonate Kinase [PDF]
Journal of Biological Chemistry, 1997 cDNA encoding human mevalonate kinase has been overexpressed and the recombinant enzyme isolated. This stable enzyme is a dimer of 42-kDa subunits and exhibits a Vm = 37 units/mg, Km(ATP) = 74 microM, and Km(DL-MVA) = 24 microM. The sensitivity of enzyme to water-soluble carbodiimide modification of carboxyl groups prompted evaluation of four invariant
D, Potter, H M, Miziorko
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Frontiers in MedicineBackgroundPorokeratosis (PK) is an autosomal dominant inherited disorder characterized by abnormal epidermal keratinization, primarily resulting from mutations in four genes associated with the mevalonate pathway: mevalonate decarboxylase (MVD ...
Yang He +7 more
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The Turkish Journal of Pediatrics, 2012 The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme.
Pınar Gençpınar +4 more
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Putative modifier genes in mevalonate kinase deficiency
Molecular Medicine Reports, 2016 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.
MARCUZZI, ANNALISA +9 more
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