Results 101 to 110 of about 9,132 (188)
C13orf31 (FAMIN) is a central regulator of immunometabolic function. [PDF]
, 2016 Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease.
core +2 more sources
Quantification of Urinary Mevalonic Acid as a Biomarker of HMG-CoA Reductase Activity by a Novel Translational LC-MS/MS Method [PDF]
, 2014 Background: Mevalonic acid (MVA), as a product of 3-hydroxy-3-methylglutaryl coenzyme A reductase, represents a potential multipurpose biomarker in health and disease. A translational urinary MVA quantification method was developed, validated and used to
Antoine, Daniel J +7 more
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Hyperimmunoglobulin-D Syndrome in Children: A Review Article
Journal of Pediatrics Review, 2016 Hyperimmunoglobulin-D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene.
Masoud Golpour, Javad Ghaffari
doaj
Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]
, 2018 Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M +5 more
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TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]
, 2016 BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK +14 more
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The Turkish Journal of PediatricsBackground. We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF). Methods.
Elif Kılıç Könte +11 more
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Journal of Human ImmunityObjectivesMevalonate kinase deficiency (MKD) is a metabolic disorder caused by a block in the mevalonate pathway, leading to impaired synthesis of cholesterol and isoprenoids. Clinically, MKD presents with recurrent inflammatory attacks. A characteristic
Anna Sediva +3 more
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GTSE1: a novel TEAD4-E2F1 target gene involved in cell protrusions formation in Triple Negative Breast Cancer [PDF]
, 2017 Dissemination of cancer cells from the primary tumors to distant organs represents the main cause of death in cancer patients. GTSE1 over-expression has been reported as a potential marker for metastasis in various types of malignancies including breast ...
Stelitano, Debora
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Diagnosis and treatment of Mevalonate Kinase Deficiency
, 2022 Mevalonate Kinase Deficiency (MKD)is a inflammatory disease, characterized by fever and inflammation in different organ systems. The disease is rare with approximately 300 known cases worldwide. This complicates the diagnosis since many physicians are unaware of the disease and its symptoms. The diagnosis can be made by genetic testing.
openaire +2 more sources
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition
Case Reports in Veterinary Medicine, 2017 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
Jonathan W. Nyce
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