Results 31 to 40 of about 4,712 (147)

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, Vitale A, Magnotti F, Lucherini OM, Caso F, Frediani B, Galeazzi M, Rigante D.   +7 more
europepmc   +8 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

Natural history of mevalonate kinase deficiency: a literature review. [PDF]

Pediatr Rheumatol Online J, 2016
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA), a more severe phenotype and rare form.
Zhang S.
europepmc   +4 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

Investigations of the Evolved Molecular Basis for Terpenoid Biosynthesis in Marine Sponges

Advanced Science, EarlyView.
Confirming and extending a previous observation in another Bubarida sponge, genomic and functional analyses of A. cavernosa reveal that sponges retain the mevalonate pathway and employ single α‐domain T1TSs and UbiA‐type TSs for terpenoid biosynthesis. The absence of T1TSs clustering with other biosynthetic genes tentatively suggests, based on limited ...
Fangyan Chen, Bao Chen, Wenhui Zhang, Guifang Sun, Yao Zhao, Jianpeng Zhang, Baofu Xu   +6 more
wiley   +1 more source

Supramolecular Degraders: An Emerging Paradigm in Targeted Protein Degradation

Advanced Science, EarlyView.
Dynamic supramolecular assembly reshapes targeted protein degradation by coordinating modular degrader construction, delivery, functional integration, and intracellular assembly or activation across proteasomal, endosomal–lysosomal, and autophagy–lysosomal pathways.
Kongjun Liu, Xue Yuan, Yan Zhou, Rui Yuan, Shaocheng Xie, Yong Chen, Peiyi Wang, Jianmei Gao, Qihai Gong   +8 more
wiley   +1 more source

The Cancer Cell Metabolic Reprogramming Remodels the Tumor Microenvironment: Molecular Mechanisms and Therapeutic Strategies

Advanced Science, EarlyView.
This review elucidates how cancer cell metabolic reprogramming—across glucose, lipid, amino acid, and nucleotide pathways—remodels the tumor microenvironment to suppress anti‐tumor immunity and promote immune escape. Targeting these metabolic axes offers promising strategies to overcome immunotherapy resistance and enhance cancer treatment.
Guoqing Xiang, Zhicheng Zhou, Xue Jiang, Zhenguang Du, Yangyang Zhan, Xinli Liu   +5 more
wiley   +1 more source