Tocilizumab for the Treatment of Mevalonate Kinase Deficiency [PDF]
Case Reports in Pediatrics, 2018 Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway.
Nadia K. Rafiq +4 more
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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
doaj +1 more source
Different adaptation strategies of two citrus scion/rootstock combinations in response to drought stress [PDF]
, 2017 Scion/rootstock interaction is important for plant development and for breeding programs. In this context, polyploid rootstocks presented several advantages, mainly in relation to biotic and abiotic stresses.
Bonatto, Diego +6 more
core +17 more sources
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
doaj +1 more source
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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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
openaire +2 more sources
An Adaptation To Life In Acid Through A Novel Mevalonate Pathway. [PDF]
, 2016 Extreme acidophiles are capable of growth at pH values near zero. Sustaining life in acidic environments requires extensive adaptations of membranes, proton pumps, and DNA repair mechanisms.
Bowie, James U +3 more
core +1 more source