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Mevalonate kinase

mevalonate kinase, MVK
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, AGE, IL-1beta
Papers on mevalonate kinase
Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signalling Pathway.
Freed et al., Edmonton, Canada. In Curr Mol Pharmacol, Feb 2016
However, near complete cessation of mevalonate and its downstream products have severe pro-inflammatory consequences as evident by patients suffering from mevalonate kinase deficiency who have increased inflammasome activity.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Cervera et al., Barcelona, Spain. In Autoimmun Rev, Jan 2016
familial Mediterranean fever, 6 (18.8%) tumour necrosis factor-receptor associated periodic syndrome, 8 (25%) cryopirin-associated periodic syndromes (Muckle-Wells syndrome [MWS] or overlap familial cold-associated periodic syndrome/MWS), 1 (3.1%) mevalonate kinase deficiency, and 5 (15.6%)
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Paediatric Rheumatology International Trials Organisations (PRINTO) and Eurofever Project et al., Ankara, Turkey. In J Rheumatol, Jan 2016
The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry.
De novo assembly and comparative analysis of root transcriptomes from different varieties of Panax ginseng C. A. Meyer grown in different environments.
He et al., Beijing, China. In Sci China Life Sci, Nov 2015
In particular, some key ginsenoside biosynthesis-related genes, including HMG-CoA synthase (HMGS), mevalonate kinase (MVK), and squalene epoxidase (SE), were upregulated in wild-grown ginseng.
Recommendations for the management of autoinflammatory diseases.
Kuemmerle-Deschner et al., Utrecht, Netherlands. In Ann Rheum Dis, Sep 2015
One of the aims of SHARE was to provide evidence-based recommendations for the management of the autoinflammatory diseases cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) and mevalonate kinase deficiency (MKD).
[Autoinflammatory syndromes in childhood].
Horneff, Sankt Augustin, Germany. In Z Rheumatol, Aug 2015
Advances in genetics and molecular biology have improved understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome and improved others.
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Ida, In Rinsho Byori, May 2015
The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
Investigation into the effects of antioxidant-rich extract of Tamarindus indica leaf on antioxidant enzyme activities, oxidative stress and gene expression profiles in HepG2 cells.
Mat Junit et al., Kuala Lumpur, Malaysia. In Peerj, 2014
The expression of KNG1, SERPINC1, SERPIND1, SERPINE1, FGG, FGA, MVK, DHCR24, CYP24A1, ALDH6A1, EPHX1 and LEAP2 were amongst the highly regulated.
Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link.
Celsi et al., Trieste, Italy. In Int J Mol Sci, 2014
This mechanism could play a significant role in Mevalonate Kinase Deficiency, an autoinflammatory disease characterized by a defect in Mevalonate Kinase, a key enzyme of the mevalonate pathway.
Negative Feedbacks by Isoprenoids on a Mevalonate Kinase Expressed in the Corpora Allata of Mosquitoes.
Noriega et al., Miami, United States. In Plos One, 2014
Mevalonate kinase (MVK) is a key enzyme in the MVAP.
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang et al., Hefei, China. In Nat Genet, 2012
The mevalonate kinase gene (MVK) emerged as the only candidate gene located in previously defined linkage regions after filtering against existing SNP databases, eight HapMap exomes and 1000 Genomes Project data and taking into consideration the functional implications of the mutations.
Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.
Aróstegui et al., Palma, Spain. In Pediatrics, 2012
This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes.
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).
Gibson et al., United States. In J Inherit Metab Dis, 2012
analyis of the aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome
The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency.
Pontillo et al., Trieste, Italy. In Pediatr Res, 2011
The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency.
Significant liver disease in a patient with Y116H mutation in the MVK gene.
Matthews et al., Philadelphia, United States. In Am J Med Genet A, 2011
Significant liver disease in a patient with Y116H mutation in the MVK gene.
Luteinizing hormone receptor mRNA down-regulation is mediated through ERK-dependent induction of RNA binding protein.
Menon et al., Ann Arbor, United States. In Mol Endocrinol, 2011
data show that LH-regulated ERK1/2 signaling is required for the LRBP-mediated down-regulation of LHR mRNA
Allogeneic bone marrow transplantation in mevalonic aciduria.
Fischer et al., Paris, France. In N Engl J Med, 2007
This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces mevalonate kinase activity.
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
Delpech et al., Paris, France. In Nat Genet, 1999
We identified the gene MVK, encoding mevalonate kinase (MK, ATP:mevalonate 5-phosphotransferase; EC,
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Poll-The et al., Amsterdam, Netherlands. In Nat Genet, 1999
Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis.
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
Sweetman et al., In N Engl J Med, 1986
The activity of mevalonate kinase, the enzyme that catalyzes the first step in mevalonate metabolism, was severely deficient in the patient's fibroblasts, lymphocytes, and lymphoblasts.
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