Biochemical and genetic aspects of mevalonate kinase and its deficiency

Thesis

Cover

STELLINGEN

Titlepage

Table of contents

Abbreviations

Chapter 1 General Introduction

Chapter 2 Biochemical and genetic aspects of mevalonate kinase and its deficiency

Chapter 3 Mutations in the gene encoding mevalonate kinase cause hyperimmunoglobulinemia D and periodic fever syndrome

Chapter 4 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

Chapter 5 Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene

Chapter 6 Genomic organization of the MVK gene, encoding mevalonate kinase, and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Chapter 7 Carrier frequency of the 1129G>A (V377I) MVK mutation, associated with Hyper-IgD Syndrome, in The Netherlands

Chapter 8 Temperature dependency of mevalonate kinase enzyme activity is a pathogenic factor in Hyper-IgD and periodic fever syndrome

Chapter 9 Regulation of the mevalonate pathway in mevalonate kinase-deficient cell lines

Summary

Samenvatting

Dankwoord

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