Genetic disorders of HDL metabolism: from model to mechanism

Genetic disorders of HDL metabolism: from model to mechanism

Authors	A.G. Holleboom
Supervisors	E.S.G. Stroes J.J.P. Kastelein
Cosupervisors	J.A. Kuivenhoven G.K. Hovingh
Award date	17-06-2011
ISBN	9789461081735
Number of pages	422
Organisations	Faculty of Medicine (AMC-UvA)
Abstract	Mensen met een hoog HDL-cholesterol in het bloed lopen minder kans op hart- en vaatziekten. Onno Holleboom ontdekte twee enzymen, LCAT en ppGaINAc-T2, die een belangrijke rol spelen in het HDL-metabolisme. Zij vormen daardoor potentiële aangrijpingspunten voor toekomstige therapieën.
Document type	PhD thesis
Language	English
Downloads	Thesis Cover Title pages Table of contents Contributing authors 1: The HDL hypothesis: does high-density lipoprotein protect from atherosclerosis? Review 2: Outline 3: The value of HDL genetics: review 4: Genetic variant of the scavenger receptor BI in humans 5: A functional mutation in GALNT2 causes reduced glycosylation of apolipoprotein C-III which improves triglyceride lipolysis in man 6: Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol 7: High prevalence of mutations in LCAT in patients with low high-density lipoprotein cholesterol levels in the Netherlands 8: Plasma levels of lecithin:cholesterol acyltransferase and risk of future coronary artery disease in apparently healthy men and women: a prospective case-control analysis nested in the EPIC Norfolk population study 9: Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase 10: Compromised LCAT function is associated with increased atherosclerosis 11: Carriers of lecithin: cholesterol acyltransferase gene mutations have accelerated atherogenesis as assessed by carotid 3T-MRI 12: Patients with low HDL-cholesterol caused by mutations in LCAT have increased arterial stiffness 13: Lipid oxidation in carriers of LCAT gene mutations 14: In vivo tissue cholesterol efflux is reduced in carriers of mutations in APOA1 and ABCA1 15: Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism 16: Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism 17: Reconstituted HDL shortens cardiac repolarization 18: TNFα induces ABCA1 through NF-κB in macrophages and in phagocytes ingesting apoptotic cells 19: Summary, general discussion and concluding perspective Samenvatting voor niet-ingewijden Publications Dankwoord (acknowledgements) Color section
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Genetic disorders of HDL metabolism: from model to mechanism