Functional characterization of missense ABCA1 variants and other monogenic causes of abnormal HDL-cholesterol levels
Marianne Teigen
Bok · Engelsk · 2026 · Doktoravhandlinger
Tekstet på: Engelsk, Bokmål
| Omfang | 1 bind (varierende paginering) : figurer
|
|---|---|
| Opplysninger | Delvis opptrykk av artikler. - Avhandling (Ph.D) - Universitetet i Oslo, 2026. - Forlagets beskrivelse: "High-density lipoprotein (HDL) particles are the transporters of cholesterol from peripheral tissues, such as atherosclerotic plaques, back to the liver in the reverse cholesterol transport pathway. HDL metabolism is regulated by several key proteins that determine both the quantity and composition of circulating HDL particles. Among these, one of the most important is ATP-binding cassette transporter A1 (ABCA1), a plasma membrane protein which facilitates HDL particle formation by transferring cellular cholesterol and phospholipids to the extracellular acceptor apolipoprotein A1. Genetic loss-of-function variants in ABCA1 therefore lead to reduced HDL-cholesterol levels in the circulation, thereby affecting the efficiency of reverse cholesterol transport. To strengthen our understanding of genetically determined abnormal HDL-cholesterol levels, we have functionally characterized naturally occurring missense variants in the ABCA1 gene, and analyzed the prevalence of causative variants in HDL-related genes in individuals from the Tromsø Study with extreme HDL-cholesterol levels."
|
| Emner | |
| Sjanger | |
| ISBN | 9788234807879
|