Results 51 to 60 of about 29,180 (194)

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis

Ginekologia Polska
Aleksandra Mikolajczak, Katarzyna Bernat-Sitarz   +1 more
doaj   +2 more sources

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

Mechanisms underlying inflammation in mevalonate kinase deficiency [PDF]

Mevalonate kinase deficiency is an autoinflammatory metabolic disorder caused by biallelic pathogenic variants in the MVK gene characterized by lifelong recurring and often unprovoked episodes of inflammation.
Politiek, F.A.
core   +3 more sources

Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation

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, Hyery Kim, Beom Hee Lee, Beom Hee Lee, Hyo-Sang Do, Gu-Hwan Kim, Sunghan Kang, Sunghan Kang, Kyung-Nam Koh, Kyung-Nam Koh, Ho Joon Im, Ho Joon Im   +11 more
doaj   +1 more source

Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist

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

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease

Pediatric dermatology, 2023
Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations.
Negar Esfandiari, Santana Vandyke, Hannah J Porter, Katelyn Shea, Keith Morley, Laura Greene   +5 more
semanticscholar   +1 more source

Mevalonate Kinase Deficiency and its pathophysiological relevance in metabolism [PDF]

, 2022
The mevalonate kinase deficiency (MKD) is an inherited disorder of the cholesterol biosynthesis. This early-onset disease is caused by mutations in the MVK gene and belongs to the ultra-rare diseases.
Beedgen, Lars Christoph
core   +1 more source

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

Electroenzymatic CO2 Fixation

Angewandte Chemie International Edition, EarlyView.
Electroenzymatic CO2 fixation enables energy‐efficient, highly selective synthesis of complex molecules. Unlocking its full potential requires fundamental understanding of electrode‐coupled reductases and carboxylases. This review critically discusses available enzymes, product scope, and key thermodynamic and kinetic considerations, highlighting ...
Leonardo Castañeda‐Losada, Michael Richter, Christophe Léger, Vincent Fourmond, Nicolas Plumeré   +4 more
wiley   +1 more source