Results 31 to 40 of about 9,132 (188)
Knockdown of MVK does not lead to changes in NALP3 expression or activation [PDF]
, 2015 Mutations in the Mevalonate Kinase gene (MVK) are causes of a rare autoinflammatory disease: Mevalonate Kinase Deficiency and its more acute manifestation, Mevalonic Aciduria.
Celsi, Fulvio +3 more
core +2 more sources
Negative Feedbacks by Isoprenoids on a Mevalonate Kinase Expressed in the Corpora Allata of Mosquitoes [PDF]
, 2015 Background Juvenile hormones (JH) regulate development and reproductive maturation in insects. JHs are synthesized through the mevalonate pathway (MVAP), an ancient metabolic pathway present in the three domains of life.
Noriega, Fernando G. +2 more
core +7 more sources
Interleukin-1 antagonists in Mevalonate Kinase Deficiency [PDF]
Pediatric Rheumatology Online Journal, 2011 Background Mevalonate Kinase Deficiency (MKD) is one of the autoinflammatory fever syndromes, caused by mutations in the MKD gene. Systemic inflammatory symptoms may be mild to severe leading to early death, and recurrent bacterial infections frequently develop in the disease course. On demand NSAID and steroids are the most commonly used.
Hachulla E +7 more
doaj +2 more sources
Weekly oral alendronate in mevalonate kinase deficiency. [PDF]
Orphanet J Rare Dis, 2013 Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.For a history of early-onset corticosteroid-
Cantarini L +7 more
europepmc +8 more sources
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease. [PDF]
, 2014 To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
de Koning, Tom J +6 more
core +1 more source
Frontiers in Immunology, 2021 Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway.
Hyery Kim +11 more
doaj +1 more source
, 2019 The aging process includes impairment in mitochondrial function, a reduction in anti-oxidant activity, and an increase in oxidative stress, marked by an increase in reactive oxygen species (ROS) production.
Barcelos, Isabella Peixoto de +1 more
core +1 more source
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]
, 2018 FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R. +9 more
core +1 more source
Xiehe Yixue Zazhi, 2023 Interleukin-1 mediated autoinflammatory diseases, a large class of autoinflammatory diseases characterized by increased release of interleukin-1 or activation of the interleukin-1 pathway, mainly include familial Mediterranean fever, cryopyrin-associated
ZHOU Yu, SONG Hongmei
doaj +1 more source
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency [PDF]
, 2015 Background: Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation ...
Arrigo, Serena +7 more
core +1 more source