Results 41 to 50 of about 9,132 (188)

Mevalonate kinase deficiency

Neurology, 2004
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase.
Simon, A., Kremer, H.P.H., Wevers, R.A., Scheffer, H., Jong, J.G.N. de, Meer, J.W.M. van der, Drenth, J.P.H.   +6 more
openaire   +5 more sources

Mevalonate Biosynthesis Intermediates Are Key Regulators of Innate Immunity in Bovine Endometritis [PDF]

, 2015
Metabolic changes can influence inflammatory responses to bacteria. To examine whether localized manipulation of the mevalonate pathway impacts innate immunity, we exploited a unique mucosal disease model, endometritis, where inflammation is a ...
Bonnett, Christine Collier, David G. Smith, Gareth D. Healey, Hans-Joachim Schuberth, I. Martin Sheldon, Ireland, Isabelle Dieuzy-Labaye, Keller, Mital, Olivier Sandra, Petras, Sholeem Griffin, Sinensky, Suman Mahan   +14 more
core   +2 more sources

The burgeoning field of innate immune-mediated disease and autoinflammation. [PDF]

, 2016
Immune-mediated autoinflammatory diseases are occupying an increasingly prominent position among the pantheon of debilitating conditions that afflict mankind.
McDermott, MF, Peckham, D, Savic, S, Scambler, T   +3 more
core   +1 more source

International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor–Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome [PDF]

, 2016
Objective: Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumor ...
Cantarini, L, Cimaz, R, Degun, R, Foeldvari, I, Frenkel, J, Gul, A, Hentgen, V, Kone-Paut, I, Kuemmerle-Deschner, JB, Lachmann, HJ, Livneh, A, Lomax, KG, Marinsek, N, Ozen, S, Patel, D, Quartier, P, Savic, S, Spalding, S, Weiss, J, Zeft, A   +19 more
core   +2 more sources

Phosphomevalonate Kinase Controls β‐Catenin Signaling via the Metabolite 5‐Diphosphomevalonate

Advanced Science, 2023
β‐catenin signaling is abnormally activated in cancer. Here, this work screens the mevalonate metabolic pathway enzyme PMVK to stabilize β‐catenin signaling using a human genome‐wide library.
Zhiqiang Chen, Xinyi Zhou, Xiaojun Zhou, Yi Tang, Mingzhu Lu, Jianhong Zhao, Chenhui Tian, Mingzhi Wu, Yanliang Liu, Edward V. Prochownik, Fubing Wang, Youjun Li   +11 more
doaj   +1 more source

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review

Genes and Diseases, 2022
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (MVK).
Isabelle Touitou
doaj   +1 more source

Mevalonate kinase deficiency and IBD: shared genetic background. [PDF]

Gut, 2014
to ...
Bianco AM, Girardelli M, Vozzi D, Crovella S, Kleiner G, Marcuzzi A.   +5 more
europepmc   +5 more sources

Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis. [PDF]

Int J Mol Sci, 2013
Tricarico PM, Marcuzzi A, Piscianz E, Monasta L, Crovella S, Kleiner G.   +5 more
europepmc   +2 more sources

The Emerging Role of Disturbed CoQ Metabolism in Nonalcoholic Fatty Liver Disease Development and Progression [PDF]

, 2015
Although non-alcoholic fatty liver disease (NAFLD), characterised by the accumulation of triacylglycerol in the liver, is the most common liver disorder, the causes of its development and progression to the more serious non-alcoholic steatohepatitis ...
Elena Bravo, Kathleen Botham, Mariarosaria Napolitano, Sumimoto   +3 more
core   +3 more sources

Farnesyl diphosphate synthase, the target for nitrogen-containing bisphosphonate drugs, is a peroxisomal enzyme in the model system Dictyostelium discoideum [PDF]

, 2012
NBP (nitrogen-containing bisphosphonate) drugs protect against excessive osteoclast-mediated bone resorption. After binding to bone mineral, they are taken up selectively by the osteoclasts and inhibit the essential enzyme FDPS (farnesyl diphosphate ...
Hettema, E. H., Nuttall, J. M., Watts, D. J.   +2 more
core   +1 more source