[HTML][HTML] Molecular and cellular consequences of mevalonate kinase deficiency

FA Politiek, M Turkenburg, L Henneman… - … et Biophysica Acta (BBA …, 2024 - Elsevier
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder
associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic …

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

SHL Mandey, MS Schneiders, J Koster… - Human …, 2006 - Wiley Online Library
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …

Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome

FA Politiek, M Turkenburg, J Koster… - Journal of Inherited …, 2024 - Wiley Online Library
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder caused by
bi‐allelic loss‐of‐function variants in the MVK gene, resulting in decreased activity of the …

[HTML][HTML] Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency

MA Munoz, OP Skinner… - The Journal of …, 2022 - Am Soc Clin Investig
Mevalonate kinase deficiency (MKD) is characterized by recurrent fevers and flares of
systemic inflammation, caused by biallelic loss-of-function mutations in MVK. The underlying …

[HTML][HTML] Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency

L Henneman, MS Schneiders, M Turkenburg… - Journal of inherited …, 2010 - Springer
Mevalonate kinase deficiency (MKD) is an autoinflammatory disorder caused by mutations
in the MVK gene resulting in decreased activity of the enzyme mevalonate kinase (MK) …

[HTML][HTML] Defective protein prenylation in a spectrum of patients with mevalonate kinase deficiency

MA Munoz, J Jurczyluk, A Simon, P Hissaria… - Frontiers in …, 2019 - frontiersin.org
The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes
HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene …

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity

L Reitzle, B Maier, S Stojanov, D Teupser… - Clinical …, 2015 - Elsevier
Objectives Mevalonate kinase deficiency, a rare autosomal recessive autoinflammatory
disease, is caused by mutations in the MVK gene encoding mevalonate kinase (MK). MK …

[HTML][HTML] Putative modifier genes in mevalonate kinase deficiency

A Marcuzzi, D Vozzi, M Girardelli… - Molecular …, 2016 - spandidos-publications.com
Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease,
caused by impairment of the mevalonate pathway. Although the molecular mechanism …

[HTML][HTML] Compromised protein prenylation as pathogenic mechanism in mevalonate kinase deficiency

FA Politiek, HR Waterham - Frontiers in immunology, 2021 - frontiersin.org
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

SM Houten, J Frenkel, GT Rijkers… - Human molecular …, 2002 - academic.oup.com
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal
recessive disorders characterized by recurrent episodes of fever and generalized …