Results 21 to 30 of about 12,260 (143)
Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency [PDF]
Pediatr Rheumatol Online J, 2015 Results Case 1 A pediatric case with splenomegaly, cervical lymphoadenopathy, failure to thrive and anemia, was found to have two pathogenic MVK variants, p.V250I and p. L315G*51, and the Q705K variant on the NLRP3 gene, considered a functional polymorphism.
Shinar Y +7 more
europepmc +3 more sources
Autoinflammatory disease syndrome of hyperimmunoglobulinemia D
Медицинский вестник Юга России, 2022 Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
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Activation of the plant mevalonate pathway by extracellular ATP
Nature Communications, 2022 Products of the mevalonate pathway support plant development. Here the authors show that the extracellular ATP receptor P2K1 phosphorylates mevalonate kinase and this affects the mevalonate pathway.
Sung-Hwan Cho +9 more
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Reaction Engineering and Comparison of Electroenzymatic and Enzymatic ATP Regeneration Systems
ChemElectroChem, 2023 Adenosine‐5’‐triphosphate (ATP) plays a crucial role in many biocatalytic reactions and its regeneration can influence the performance of a related enzymatic reaction significantly.
Regine Siedentop +4 more
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A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene [PDF]
مجلة جامعة النجاح للأبحاث العلوم الطبيعية, 2016 Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations.
Imad Dweikat, Nadera Damsa, Enas Naser
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Enterococcus faecalis mevalonate kinase [PDF]
Protein Science, 2004 AbstractGram‐positive pathogens synthesize isopentenyl diphosphate, the five‐carbon precursor of isoprenoids, via the mevalonate pathway. The enzymes of this pathway are essential for the survival of these organisms, and thus may represent possible targets for drug design.
Matija, Hedl, Victor W, Rodwell
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Mevalonate kinase deficiency syndrome: Single center experience
Научно-практическая ревматология, 2021 The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova +23 more
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3-Hydroxy-3-methylglutaryl CoA reductase and mevalonate kinase of Neurospora crassa
Journal of Lipid Research, 1974 Two enzymes of polyisoprenoid synthesis, 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase (mevalonate:NADP oxidoreductase [acylating CoA] , EC 1.1.1.34) and mevalonate kinase (ATP:mevalonate 5-phosphotransferase, EC 2.7.1.36), are present in the
Richard L. Imblum, Victor W. Rodwell
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Вопросы современной педиатрии, 2012 Periodic fever syndrome with mevalonate kinase deficiency, also known as hyperimmunoglobulinemia D syndrome, is characterized by early onset and relatively benign course.
Yu. S. Patrusheva, M. D. Bakradze
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Further engineering of R. toruloides for the production of terpenes from lignocellulosic biomass
Biotechnology for Biofuels, 2021 Background Mitigation of climate change requires that new routes for the production of fuels and chemicals be as oil-independent as possible. The microbial conversion of lignocellulosic feedstocks into terpene-based biofuels and bioproducts represents ...
James Kirby +21 more
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