Results 31 to 40 of about 4,456 (149)

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]

Seminars in Immunopathology, 2015
Anna Simon
exaly   +2 more sources

PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN

Вопросы современной педиатрии, 2012
Periodic fever syndrome with mevalonate kinase deficiency, also known as hyperimmunoglobulinemia D syndrome, is characterized by early onset and relatively benign course.
Yu. S. Patrusheva, M. D. Bakradze
doaj   +1 more source

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   +4 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

Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency

Cellular Physiology and Biochemistry, 2017
Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be ...
Paola Maura Tricarico, Alessandra Romeo, Rossella Gratton, Sergio Crovella, Fulvio Celsi   +4 more
doaj   +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

Functional Suppression of SCAP Triggers Endoplasmic Reticulum Stress‐Dependent Ferroptosis by Impairing Cholesterol Metabolism in Gastric Cancer

Advanced Science, EarlyView.
This study reveals a novel GC therapy targeting cholesterol homeostasis. Inhibiting the SCAP sterol‐sensing domain causes lethal ER stress via cholesterol accumulation, paradoxically forcing continuous synthesis that triggers ferroptosis. The findings link sterol sensing, metabolic dysregulation, and ferroptosis, establishing an anti‐cancer paradigm ...
Qianqian Xu, Guangzhao Pan, Lele Zhang, Xiangliu Chen, Kui Zhang, Yang Lu, Zibo Duan, Aiping Chen, Hailong Shen, Yuxi Zhang, Xiaowu Dong, Jinzhou Huang, Xing Huang, Kai Miao, Qian Hua, Fangfang Tao, Weidong Zhang, Jiang‐Jiang Qin   +17 more
wiley   +1 more source

Dapagliflozin alleviates high‐fat‐induced obesity cardiomyopathy by inhibiting ferroptosis

ESC Heart Failure, Volume 12, Issue 2, Page 1358-1373, April 2025.
Abstract Aim: Dapagliflozin (Dapa) is a novel hypoglycaemic agent with multiple cardiovascular protective effects, and it is widely used in treatment of heart failure patients, but whether it can improve obese phenotype of heart failure and its mechanism is still unclear.
Di Chen, Jiahao Shi, Yue Wu, Lizhu Miao, Zilin Wang, Yixuan Wang, Siwei Xu, Yu Lou   +7 more
wiley   +1 more source