Results 21 to 30 of about 13,572 (204)
Structural insight into substrate and product binding in an archaeal mevalonate kinase. [PDF]
PLoS ONE, 2018 Mevalonate kinase (MK) is a key enzyme of the mevalonate pathway, which produces the biosynthetic precursors for steroids, including cholesterol, and isoprenoids, the largest class of natural products.
Bradley R Miller, Yan Kung
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Weekly oral alendronate in mevalonate kinase deficiency [PDF]
Orphanet Journal of Rare Diseases, 2013 Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.For a history of early-onset corticosteroid-
Cantarini L. +7 more
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Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [PDF]
Orphanet Journal of Rare Diseases, 2006 Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Hoffmann Georg F, Haas Dorothea
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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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Homozygous V377I mutation causing mevalonate kinase. [PDF]
BMJ Case Rep, 2022 Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. Compound heterozygotes that include this variant may exhibit a more severe phenotype of the disease and homozygotes are ...
Brito T +3 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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Clinical, Cosmetic and Investigational DermatologyXiuping Wang,1 Xiaoliang Ouyang,2 Deng Zhang,1 Yunxia Zhu,1 Liang Wu,1 Zhen Xiao,3 Simin Yu,1 Wei Li,2 Chunming Li1 1Department of Dermatology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China ...
Wang X +8 more
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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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