mevalonic acid and Mevalonate Kinase Deficiency

mevalonic acid has been researched along with Mevalonate Kinase Deficiency in 30 studies

Research

Studies (30)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	26 (86.67)	24.3611
2020's	4 (13.33)	2.80

Authors

Authors	Studies
Marcuzzi, A; Melloni, E; Rimondi, E; Secchiero, P; Tommasini, A; Valencic, E	1
Brink, R; Deenick, EK; Fletcher, EK; Hissaria, P; Hodson, MP; Jurczyluk, J; Kaur, S; Kristianto, E; Masle-Farquhar, E; Mehr, S; Mulders-Manders, CM; Munoz, MA; O'Donoghue, SI; Perry, KA; Robertson, AA; Rogers, MJ; Simon, A; Skinner, OP; Xiao, Y; Zahra, DG	1
Bakkaloğlu, SA; Cengiz Ergin, FB; Eğritaş Gürkan, Ö; Esmeray Şenol, P; Ezgü, FS; Gezgin Yıldırım, D; Inci, A; Karaçayır, N; Okur, I; Sunar Yayla, ENS; Tümer, L; Yıldız, Ç	1
Bida, M; Kiabilua, O; Pillay, TS; Satekge, TM; Terblanche, AJ	1
Baronio, F; Beedgen, L; Brennenstuhl, H; Gleich, F; Haas, D; Hoffmann, GF; Jeltsch, K; Kölker, S; Martini, S; Nashawi, M; Opladen, T; Schröter, J; Simon, A; Thiel, C; Tsiakas, K; von Landenberg, C	1
Heike, T; Hiramoto, R; Inui, A; Komori, I; Matsumoto, S; Nishikomori, R; Tanaka, T; Umetsu, S; Yamashita, Y	1
Dawany, N; Dunn, K; Kelsen, JR; Pasternak, B; Sullivan, KE; Wright, BL	1
Arts, RJW; Bekkering, S; Chavakis, T; Joosten, LAB; Kourtzelis, I; Li, Y; Netea, MG; Netea-Maier, RT; Novakovic, B; Popa, CD; Riksen, NP; Stunnenberg, H; Ter Horst, R; van de Veerdonk, FL; van der Heijden, CDCC; van der Meer, JWM; van Tuijl, J	1
Abe, J; Arakawa, H; Hata, I; Heike, T; Hiramoto, R; Ishii, E; Kaneko, U; Kawai, T; Morimoto, A; Nishikomori, R; Ohara, O; Ohshima, Y; Okamoto, N; Sakai, H; Shigematsu, Y; Tanaka, T; Yamashita, Y; Yasumi, T; Yoshioka, K	1
Celsi, F; Crovella, S; Gratton, R; Tricarico, PM	1
Becken, B; Coppola, T; McDonald, MT; Panayotti, GM; Van Mater, H	1
Crovella, S; Kleiner, G; Marcuzzi, A; Monasta, L; Piscianz, E; Tricarico, PM; Zanin, V	1
Campisciano, G; Crovella, S; Girardelli, M; Kleiner, G; Knowles, A; Marcuzzi, A; Tricarico, PM; Valencic, E	1
Gersting, SW; Maier, B; Muntau, AC; Reitzle, L; Stojanov, S; Teupser, D; Vogeser, M	1
Crovella, S; Kleiner, G; Marcuzzi, A; Monasta, L; Piscianz, E; Tricarico, PM	1
Celsi, F; Crovella, S; Tricarico, PM	1
Bianco, AM; Faletra, F; Girardelli, M; Knowles, A; Marcuzzi, A; Tommasini, A; Vozzi, D; Zauli, G	1
Freed, DH; Muller, AL	1
Bianco, AM; Crovella, S; Girardelli, M; Knowles, A; Marcuzzi, A; Piscianz, E; Tommasini, A; Tricarico, PM; Vozzi, D; Vuch, J	1
Baj, G; Bortul, R; Celeghini, C; Girardelli, M; Loganes, C; Marcuzzi, A; Monasta, L; Piscianz, E; Zweyer, M	1
Amaral, AU; Cecatto, C; da Silva, JC; Godoy, KDS; Gonçalves, AM; Ribeiro, RT; Vargas, CR; Wajner, A; Wajner, M	1
Crovella, S; Paoluzzi, E; Pontillo, A	1
Crovella, S; De Leo, L; Decorti, G; Marcuzzi, A; Pontillo, A; Tommasini, A	1
Baldovič, M; Dallos, T; Fehérvízyová, Z; Hlavatá, A; Kadasi, L; Kovacs, L; Paulovicova, E	1
Simon, A; Stoffels, M	1
Heike, T; Sakai, H	1
Aróstegui, JI; Baña Souto, A; Couce, ML; Garcia-Villoria, J; Ribes, A; Ruiz Gomez, A; Torres, A; Vilaseca, MA; Yagüe, J	1
Crovella, S; Frenkel, J; Gattorno, M; Marcuzzi, A; Monasta, L; Vecchi Brumatti, L	1
Boes, ML; Frenkel, J; Ter Haar, NM; van der Burgh, R	1
Prasad, C; Rupar, CA; Salvadori, MI	1

Reviews

6 review(s) available for mevalonic acid and Mevalonate Kinase Deficiency

Article	Year
Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link. International journal of molecular sciences, 2015, Jul-15, Volume: 16, Issue:7 Topics: Autophagy; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Mevalonate Kinase Deficiency; Mevalonic Acid; Mitochondria; Phosphotransferases (Alcohol Group Acceptor); Protein Prenylation; TOR Serine-Threonine Kinases	2015
Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signaling Pathway. Current molecular pharmacology, 2017, Volume: 10, Issue:1 Topics: Cholesterol; GTP Phosphohydrolases; Humans; Hydroxymethylglutaryl CoA Reductases; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Inflammation; Mevalonate Kinase Deficiency; Mevalonic Acid; Signal Transduction	2017
Hyper-IgD syndrome or mevalonate kinase deficiency. Current opinion in rheumatology, 2011, Volume: 23, Issue:5 Topics: Animals; Humans; Immunoglobulin D; Interleukin-1; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; Monomeric GTP-Binding Proteins; Phenotype; Signal Transduction; Terpenes	2011
[Hyperimmunoglobulinemia D and periodic fever syndrome]. Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology, 2011, Volume: 34, Issue:5 Topics: Animals; Biomarkers; Caspase 1; Diagnosis, Differential; Fever of Unknown Origin; Humans; Infant; Interleukin-1beta; Mevalonate Kinase Deficiency; Mevalonic Acid; Periodicity; Phosphotransferases (Alcohol Group Acceptor); Polyisoprenyl Phosphates; Syndrome	2011
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation. Current pharmaceutical design, 2012, Volume: 18, Issue:35 Topics: Animals; Anti-Inflammatory Agents; Apoptosis; Cytokines; Drug Design; Hereditary Autoinflammatory Diseases; Humans; Inflammasomes; Inflammation; Mevalonate Kinase Deficiency; Mevalonic Acid	2012
Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clinical immunology (Orlando, Fla.), 2013, Volume: 147, Issue:3 Topics: Enzyme Activation; Humans; Inflammasomes; Inflammation; Interleukin-1beta; Mevalonate Kinase Deficiency; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor); Polyisoprenyl Phosphates; rac1 GTP-Binding Protein; Rare Diseases	2013

Other Studies

24 other study(ies) available for mevalonic acid and Mevalonate Kinase Deficiency

Article	Year
Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation. Biomolecules, 2021, 09-30, Volume: 11, Issue:10 Topics: Alendronate; Animals; Anti-Inflammatory Agents; Apoptosis; Autophagy; Biosynthetic Pathways; Cell Death; Cell Shape; Farnesyl-Diphosphate Farnesyltransferase; Inflammation; Interleukin-6; Lipopolysaccharides; Macrophages; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; Mitochondria; Oxazepines; Piperidines; RAW 264.7 Cells; Tumor Necrosis Factor-alpha	2021
Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency. The Journal of clinical investigation, 2022, 10-03, Volume: 132, Issue:19 Topics: Animals; Body Temperature; Fever; GTP Phosphohydrolases; Humans; Inflammasomes; Lipopolysaccharides; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; NLR Family, Pyrin Domain-Containing 3 Protein; Phosphotransferases (Alcohol Group Acceptor); Protein Prenylation	2022
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation. Joint bone spine, 2023, Volume: 90, Issue:1 Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor)	2023
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease. Clinica chimica acta; international journal of clinical chemistry, 2019, Volume: 498 Topics: alpha 1-Antitrypsin Deficiency; Cytomegalovirus Infections; Diagnosis, Differential; Humans; Hyperbilirubinemia; Infant; Liver Diseases; Male; Mevalonate Kinase Deficiency; Mevalonic Acid	2019
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:5 Topics: Adolescent; Adult; Disease Progression; Female; Humans; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mutation, Missense; Phosphotransferases (Alcohol Group Acceptor); Young Adult	2021
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology, 2017, Volume: 40, Issue:2 Topics: Anemia; Biomarkers; Child; Cholestasis; Edema; Female; Genetic Testing; Humans; Immunoglobulin D; Mevalonate Kinase Deficiency; Mevalonic Acid; Mutation; Phosphotransferases (Alcohol Group Acceptor); Prednisolone; Relapsing Fever; Treatment Outcome	2017
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology, 2018, Volume: 120, Issue:2 Topics: Abscess; Antibodies, Monoclonal; Antibodies, Monoclonal, Humanized; Diagnosis, Differential; Exome Sequencing; Gene Frequency; Genotype; Humans; Infant; Interleukin-1beta; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mutation; Pedigree; Phosphotransferases (Alcohol Group Acceptor); Rectal Fistula; Rectum; Remission Induction	2018
Metabolic Induction of Trained Immunity through the Mevalonate Pathway. Cell, 2018, 01-11, Volume: 172, Issue:1-2 Topics: Animals; Cells, Cultured; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Immunity, Innate; Immunologic Memory; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; Mice, Inbred C57BL; Monocytes; Receptor, IGF Type 1	2018
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. Modern rheumatology, 2019, Volume: 29, Issue:1 Topics: Anti-Inflammatory Agents, Non-Steroidal; Antibodies, Monoclonal; Antibodies, Monoclonal, Humanized; Female; Genetic Testing; Glucocorticoids; Humans; Immunologic Factors; Infant; Interleukin-1beta; Japan; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor); Surveys and Questionnaires; Symptom Assessment	2019
Prolonged treatment with mevalonolactone induces oxidative stress response with reactive oxygen species production, mitochondrial depolarization and inflammation in human glioblastoma U-87 MG cells. Neurochemistry international, 2018, Volume: 120 Topics: Glioblastoma; Humans; Inflammation; Mevalonate Kinase Deficiency; Mevalonic Acid; Oxidative Stress; Phenotype; Phosphotransferases (Alcohol Group Acceptor); Reactive Oxygen Species	2018
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness. BMC pediatrics, 2019, 07-20, Volume: 19, Issue:1 Topics: Antibodies, Monoclonal, Humanized; Brain; Exanthema; Female; Fever; Humans; Infant; Interleukin 1 Receptor Antagonist Protein; Magnetic Resonance Imaging; Mevalonate Kinase Deficiency; Mevalonic Acid; Muscle Weakness	2019
Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study. BioMed research international, 2013, Volume: 2013 Topics: Acyclic Monoterpenes; Anti-Inflammatory Agents; Apoptosis; Biosynthetic Pathways; Carrier Proteins; Child; Cytokines; Female; Humans; Inflammasomes; Interleukin-1beta; Lipopolysaccharides; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; NLR Family, Pyrin Domain-Containing 3 Protein; Quinolones; Temperature; Terpenes	2013
Block of the mevalonate pathway triggers oxidative and inflammatory molecular mechanisms modulated by exogenous isoprenoid compounds. International journal of molecular sciences, 2014, Apr-22, Volume: 15, Issue:4 Topics: Animals; Apoptosis; Carotenoids; Carrier Proteins; Cell Line; Cytokines; Diterpenes; Humans; Lycopene; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; Mitochondria; Nitric Oxide; NLR Family, Pyrin Domain-Containing 3 Protein; Phytol; Terpenes	2014
Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity. Clinical biochemistry, 2015, Volume: 48, Issue:12 Topics: Chromatography, Liquid; Humans; Mevalonate Kinase Deficiency; Mevalonic Acid; Models, Molecular; Phosphorylation; Phosphotransferases (Alcohol Group Acceptor); Protein Structure, Secondary; Tandem Mass Spectrometry	2015
Microglia activation and interaction with neuronal cells in a biochemical model of mevalonate kinase deficiency. Apoptosis : an international journal on programmed cell death, 2015, Volume: 20, Issue:8 Topics: Animals; Apoptosis; Cell Line; Coculture Techniques; Cytokines; Disease Models, Animal; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Inflammation; Lipopolysaccharides; Lovastatin; Membrane Potential, Mitochondrial; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; Microglia; Neurons	2015
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. Molecular medicine reports, 2015, Volume: 12, Issue:4 Topics: Abnormalities, Multiple; Child; Databases, Genetic; Exome; Female; Genetic Association Studies; Genetic Diseases, X-Linked; Genetic Markers; Genetic Variation; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Intellectual Disability; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mitochondrial Proteins; Mothers; Mutation, Missense; Phenotype; Phosphotransferases (Alcohol Group Acceptor); ras Proteins; Receptors, Androgen; X Chromosome Inactivation	2015
Putative modifier genes in mevalonate kinase deficiency. Molecular medicine reports, 2016, Volume: 13, Issue:4 Topics: B-Lymphocytes; Exons; Female; Genotype; High-Throughput Nucleotide Sequencing; Humans; INDEL Mutation; Male; Membrane Proteins; Mevalonate Kinase Deficiency; Mevalonic Acid; Phenotype; Polymerase Chain Reaction; Sequence Analysis, DNA; Uracil-DNA Glycosidase	2016
Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology. International journal of molecular sciences, 2016, Mar-11, Volume: 17, Issue:3 Topics: Apoptosis; Cell Line; Diterpenes; Gene Expression Regulation; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Mevalonate Kinase Deficiency; Mevalonic Acid; Mitochondria; Models, Biological; Neurons; NLR Family, Pyrin Domain-Containing 3 Protein; Oxidative Stress	2016
Mevalonolactone disrupts mitochondrial functions and induces permeability transition pore opening in rat brain mitochondria: Implications for the pathogenesis of mevalonic aciduria. Neurochemistry international, 2017, Volume: 108 Topics: Animals; Brain; Liver; Membrane Potential, Mitochondrial; Mevalonate Kinase Deficiency; Mevalonic Acid; Mitochondria; Mitochondrial Membrane Transport Proteins; Mitochondrial Permeability Transition Pore; Rats; Rats, Wistar	2017
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency. European journal of human genetics : EJHG, 2010, Volume: 18, Issue:7 Topics: Alendronate; Carrier Proteins; Child; Female; Humans; Inflammation; Leukocytes, Mononuclear; Lipopolysaccharides; Male; Metabolic Networks and Pathways; Mevalonate Kinase Deficiency; Mevalonic Acid; NLR Family, Pyrin Domain-Containing 3 Protein; Up-Regulation; Young Adult	2010
Targeting farnesyl-transferase as a novel therapeutic strategy for mevalonate kinase deficiency: in vitro and in vivo approaches. Pharmacological research, 2010, Volume: 61, Issue:6 Topics: Adult; Animals; Anti-Inflammatory Agents; Cells, Cultured; Child, Preschool; Enzyme Inhibitors; Farnesyltranstransferase; Female; Humans; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mice; Mice, Inbred BALB C; Monocytes; Polyenes; Polyisoprenyl Phosphates; Polyunsaturated Alkamides; Young Adult	2010
Elevated immunoglobulin D levels in children with PFAPA syndrome. Neuro endocrinology letters, 2010, Volume: 31, Issue:6 Topics: Arthralgia; Child, Preschool; Cohort Studies; Diagnosis, Differential; Erythema; Exanthema; Female; Fever; Genotype; Humans; Immunoglobulin D; Infant; Lymphadenitis; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Pharyngitis; Stomatitis, Aphthous; Syndrome; Time Factors	2010
Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency. Pediatrics, 2012, Volume: 129, Issue:2 Topics: Alleles; Brain; Cerebellar Ataxia; Cerebellum; Child; Diagnosis, Differential; DNA Mutational Analysis; Failure to Thrive; Fever of Unknown Origin; Genes, Recessive; Genetic Variation; Genotype; Humans; Infant; Interleukin 1 Receptor Antagonist Protein; Magnetic Resonance Imaging; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Myoclonic Cerebellar Dyssynergia; Phenotype; Psychomotor Disorders	2012
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. Molecular genetics and metabolism, 2012, Volume: 107, Issue:4 Topics: Fatal Outcome; Heterozygote; Humans; Infant; Infant, Newborn; Male; Mevalonate Kinase Deficiency; Mevalonic Acid; Mutation; Phenotype	2012