ArticleJournal of inherited metabolic disease2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.
Article in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 45 citations in OpenAlex.
- Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.Frontiers in immunology · 2024Article
- Bisphosphonate affects the behavioral responses to HCl by disrupting farnesyl diphosphate synthase in mouse taste bud and tongue epithelial cells.Scientific reports · 2022Article
- Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.The Journal of clinical investigation · 2022Article
- Rad52 mediates class-switch DNA recombination to IgD.Nature communications · 2022Article
- Functional Genomics of the Retina to Elucidate its Construction and Deconstruction.International journal of molecular sciences · 2019Review
- Inflammasome-Dependent Cytokines at the Crossroads of Health and Autoinflammatory Disease.Cold Spring Harbor perspectives in biology · 2019Review
- Somatic genome editing with CRISPR/Cas9 generates and corrects a metabolic disease.Scientific reports · 2017Article
- IgD class switching is initiated by microbiota and limited to mucosa-associated lymphoid tissue in mice.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Mevalonate kinase deficiency: current perspectives.The application of clinical genetics · 2016Review
- To Extinguish the Fire from Outside the Cell or to Shutdown the Gas Valve Inside? Novel Trends in Anti-Inflammatory Therapies.International journal of molecular sciences · 2015Review
- Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?Seminars in immunopathology · 2015Review
- Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Annual review of immunology · 2015Review
- Knockdown of MVK does not lead to changes in NALP3 expression or activation.Journal of inflammation (London, England) · 2015Article
- Hidden disease susceptibility and sexual dimorphism in the heterozygous knockout of Cyp51 from cholesterol synthesis.PloS one · 2014Article
- Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis.International journal of molecular sciences · 2013Review
- Establishment of a transgenic mouse model with liver-specific expression of secretory immunoglobulin D.Science China. Life sciences · 2012Article
- Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).Journal of inherited metabolic disease · 2012Article
- Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.The Journal of biological chemistry · 2011Article
- The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.Journal of lipid research · 2011Article
- The function and regulation of immunoglobulin D.Current opinion in immunology · 2011Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the current study our objective was to develop a murine model of human hyper-IgD syndrome (HIDS) and severe mevalonic aciduria (MA), autoinflammatory disorders associated with mevalonate kinase deficiency (MKD). Deletion of one Mvk allele (Mvk (+/-)) yielded viable mice with significantly reduced liver Mvk enzyme activity; multiple matings failed to produce Mvk (-/-) mice. Cholesterol levels in tissues and blood, and isoprene end-products (ubiquinone, dolichol) in tissues were normal in Mvk (+/-) mice; conversely, mevalonate concentrations were increased in spleen, heart, and kidney yet normal in brain and liver. While the trend was for higher IgA levels in Mvk (+/-) sera, IgD levels were significantly increased (9-12-fold) in comparison to Mvk (+/+) littermates, in both young (<15 weeks) and older (>15 weeks) mice. Mvk (+/-) animals manifested increased serum TNF-alpha as compared to wild-type littermates, but due to wide variation in levels between individual Mvk (+/-) mice the difference in means was not statistically significant. Mvk (+/-) mice represent the first animal model of HIDS, and should prove useful for examining pathophysiology associated with this disorder.
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