Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H et al.
Journal of Inherited Metabolic Disease, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Politiek FA et al.
Frontiers in Immunology, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Tricarico PM et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C et al.
Annals of Human Genetics, 2015
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L et al.
European Journal of Human Genetics : Ejhg, 2001
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
Houten SM et al.
Biochimica Et Biophysica Acta, 2000
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Houten SM et al.
Human Molecular Genetics, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
Hinson DD et al.
American Journal of Human Genetics, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM et al.
Nature Genetics, 1999
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
Hinson DD et al.
The Journal of Biological Chemistry, 1997
Mevalonic acidemia: first case of Japan.
Okamoto N et al.
The Japanese Journal of Human Genetics, 1997
Identification and functional characterization of an active-site lysine in mevalonate kinase.
Potter D et al.
The Journal of Biological Chemistry, 1997
Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
Goebel-Schreiner B et al.
Journal of Inherited Metabolic Disease, 1995