Phytanic acid oxidation and the enzymatic and molecular basis of Refsum's disease

Thesis

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Titlepage

Contents

Abbreviations

Introduction

Chapter 1 Phytanic acid -oxidation:a review

Chapter 2 Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid -oxidation in humans

Chapter 3 Phytanoyl-Coenzyme A Hydroxylase Deficiency-The Enzyme Defect in Refsum's Disease

Chapter 4 Short Communication-SSIEM Award Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

Chapter 5 Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders

Chapter 6 Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Chapter 7 Short Communication Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA

Chapter 8 Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localisation of phytanic acid -oxidation

Chapter 9 Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease

Chapter 10 Phytanic acid -oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes

Summary

Samenvatting

Dankwoord

List of publications

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