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Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. [PDF]
JAAD Case Rep, 2018 Glinos GD +5 more
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Perinatal Onset Mevalonate Kinase Deficiency
Pediatric and Developmental Pathology, 2011 Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually
Laurie A Steiner +2 more
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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]
Seminars in Immunopathology, 2015 Contains fulltext : 153021.pdf (Publisher’s version ) (Open Access)Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene.
Anna Simon
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Analytical Biochemistry, 1970
Abstract A suitable assay has been developed for accurate measurements of mevalonate kinase in a crude enzyme preparation. The assay is particularly useful where comparative, tissue-specific, or developmental studies are to be made on mevalonate kinase.
T R, Green, D J, Baisted
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Abstract A suitable assay has been developed for accurate measurements of mevalonate kinase in a crude enzyme preparation. The assay is particularly useful where comparative, tissue-specific, or developmental studies are to be made on mevalonate kinase.
T R, Green, D J, Baisted
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Effect of a disulfide bond on mevalonate kinase
Biochimica Et Biophysica Acta - Proteins and Proteomics, 2007Mevalonate kinase is one of ATP-dependent enzymes in the mevalonate pathway and catalyzes the phosphorylation of mevalonate to form mevalonate 5-phosphate. In animal cells, it plays a key role in regulating biosynthesis of cholesterol, while in microorganisms and plants, it is involved in the biosynthesis of isoprenoid derivatives that are one of the ...
Xiusheng Chu, Nan Li, Ding Li
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Mevalonate kinase deficiency nomenclature
Rheumatology International, 2013In the letter of Celsi et al. [1], the authors suggest dropping the names of hyper-IgD syndrome (HIDS) and mevalonate kinase deficiency (MKD) for this hereditary syndrome. They base their conclusion upon the fact that there is no correlation between serum IgD concentration and disease severity, that not all HIDS patients show elevated IgD, and that ...
Stoffels, M. +2 more
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Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria
Journal of Inherited Metabolic Disease, 1997Mevalonic aciduria, the result of mevalonate kinase (MKase) deficiency (McKusick 251170), is a rare abnormality of cholesterol and nonsterol isoprene biosynthesis identified in approximately 14 patients. The phenotype includes developmental delays, failure to thrive, hypotonia, ataxia, organomegaly, dysmorphia, cataracts, lymphadenopathy, myopathy and ...
K M, Gibson +3 more
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Bifunctional Inhibitors of Mevalonate Kinase and Mevalonate 5-Diphosphate Decarboxylase
Organic Letters, 2006[structure: see text] A bifunctional inhibitor of mevalonate kinase and mevalonate 5-diphosphate decarboxylase was synthesized. Both enzymes are in the cholesterol biosynthetic pathway and play an important role in regulating cholesterol biosynthesis.
Yongge, Qiu, Ding, Li
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2019
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene. It is characterized by recurrent attacks of fever mostly associated with cervical lymphadenopathy, cutaneous, digestive, and musculoskeletal manifestations.
Joost Frenkel, Anna Simon
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Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene. It is characterized by recurrent attacks of fever mostly associated with cervical lymphadenopathy, cutaneous, digestive, and musculoskeletal manifestations.
Joost Frenkel, Anna Simon
openaire +2 more sources
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria
European Journal of Pediatrics, 1988Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father
K Michael Gibson, L Sweetman, R Berger
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