Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Robert van der Burgh"'
Autor:
Marianne Boes, Robert van der Burgh, Joost Frenkel, Lieneke Jongeneel, Marielle E. van Gijn, Niels Bovenschen, Jan Meeldijk
Publikováno v:
Oncotarget, 7(15), 19265. Impact Journals
Oncotarget
Oncotarget
Patients who suffer from autoinflammatory disease (AID) exhibit seemingly uncontrolled release of interleukin (IL)-1β. The presence of this inflammatory cytokine triggers immune activation in absence of pathogens and foreign material. The mechanisms
Autor:
Marianne Boes, Robert van der Burgh, Joost Frenkel, Marjolein Turkenburg, Kalliopi Pervolaraki, Hans R. Waterham
Publikováno v:
Journal of biological chemistry, 289(40), 27757-27765. American Society for Biochemistry and Molecular Biology Inc.
Protein prenylation is a post-translational modification whereby non-sterol isoprenoid lipid chains are added, thereby modifying the molecular partners with which proteins interact. The autoinflammatory disease mevalonate kinase deficiency (MKD) is c
Autor:
Lieneke H. Jongeneel, Robert van der Burgh, Marielle E. van Gijn, Pier G. Mastroberardino, Ewoud B. Compeer, Kalliopi Pervolaraki, Michael P. Murphy, Lotte Nijhuis, Paul J. Coffer, Joost Frenkel, Marianne Boes
Publikováno v:
The Journal of Biological Chemistry
Journal of Biological Chemistry, 289(8), 5000-5012. American Society for Biochemistry and Molecular Biology Inc.
Journal of Biological Chemistry, 289(8), 5000-5012. American Society for Biochemistry and Molecular Biology Inc.
Background: Periodic fever syndromes are caused by deregulation of interleukin-1β release. Results: Defective autophagy leads to accumulation of damaged mitochondria in monocytes. Conclusion: Mitochondrial components in the cytosol cause priming of
Autor:
Marianne Boes, Robert van der Burgh
Publikováno v:
Trends in Endocrinology and Metabolism, 26(5), 263. Elsevier Inc.
People suffering from autoinflammatory disease (AID) have recurring sterile inflammation due to dysregulated inflammasome activation. Although certain genes have been associated with several AIDs, the molecular underpinnings of seemingly spontaneous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d141387c7e09f4cde6584e8fbb707f56
https://dspace.library.uu.nl/handle/1874/331442
https://dspace.library.uu.nl/handle/1874/331442
Publikováno v:
Clinical immunology (Orlando, Fla.). 147(3)
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical presentation and treatment. Mutations in both copies of the MVK-gene lead t