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mevalonate kinase deficiency/glutathione
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The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria.
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Mevalonic aciduria belongs to a group of rare inherited metabolic disorders related to cholesterol biosynthesis. The pathogenesis of mevalonic aciduria is not clear, although the cause is known - a genetic defect leading to a deficiency in mevalonate kinase activity. The lack of non-steroid
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
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Sequencing of polymerase chain reaction-amplified cDNAs from cultured cells of three patients with mevalonate kinase deficiency revealed a G --> A transversion at nucleotide 1000 of the coding region, converting alanine to threonine at position 334 (A334T). To characterize this defect, we expressed
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
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Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity of mevalonate kinase due to mutations in the encoding gene. Thus
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
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Glucose-6-phosphate dehydrogenase (G6PD) is an oncoprotein that is overexpressed in cancer cells to provide the NADPH required for their increased anabolism. NADPH, sourced from G6PD fuels nucleotide biosynthesis, maintains redox potential of thioredoxin and glutathione and drives the mevalonate
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