The role of the ATP-binding cassette A1 (ABCA1) in human disease

L Jacobo-Albavera, M Domínguez-Pérez… - International journal of …, 2021 - mdpi.com
Cholesterol homeostasis is essential in normal physiology of all cells. One of several
proteins involved in cholesterol homeostasis is the ATP-binding cassette transporter A1 …

LDL-C does not cause cardiovascular disease: a comprehensive review of the current literature

U Ravnskov, M de Lorgeril, DM Diamond… - Expert review of …, 2018 - Taylor & Francis
Introduction: For half a century, a high level of total cholesterol (TC) or low-density
lipoprotein cholesterol (LDL-C) has been considered to be the major cause of …

Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

F Civeira… - Atherosclerosis, 2004 - Elsevier
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism
characterized by very high plasma concentrations of low density lipoprotein cholesterol …

[HTML][HTML] Genetics of coronary artery disease and myocardial infarction

X Dai, S Wiernek, JP Evans… - World journal of …, 2016 - ncbi.nlm.nih.gov
Atherosclerotic coronary artery disease (CAD) comprises a broad spectrum of clinical
entities that include asymptomatic subclinical atherosclerosis and its clinical complications …

Efflux and Atherosclerosis: The Clinical and Biochemical Impact of Variations in the ABCA1 Gene

RR Singaraja, LR Brunham, H Visscher… - … , and vascular biology, 2003 - Am Heart Assoc
Approximately 50 mutations and many single nucleotide polymorphisms have been
described in the ABCA1 gene, with mutations leading to Tangier disease and familial …

[HTML][HTML] Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels

V Bianconi, M Banach, M Pirro, ILE Panel - Trends in Cardiovascular …, 2021 - Elsevier
Familial hypercholesterolemia (FH) is a common genetic cause of elevated low-density
lipoprotein cholesterol (LDL-C) due to defective clearance of circulating LDL particles. All FH …

Variations on a Gene: Rare and Common Variants in ABCA1 and Their Impact on HDL Cholesterol Levels and Atherosclerosis

LR Brunham, RR Singaraja, MR Hayden - Annu. Rev. Nutr., 2006 - annualreviews.org
▪ Abstract Cholesterol and its metabolites play a variety of essential roles in living systems.
Virtually all animal cells require cholesterol, which they acquire through synthesis or uptake …

[HTML][HTML] HDL, cholesterol efflux, and ABCA1: Free from good and evil dualism

M Ogura - Journal of Pharmacological Sciences, 2022 - Elsevier
Homozygotes for loss-of-function mutations in ABCA1 cause Tangier disease. The
phenotype of their markedly reduced or loss of blood high-density lipoprotein (HDL) …

Computational SNP analysis and molecular simulation revealed the most deleterious missense variants in the NBD1 domain of human ABCA1 transporter

R Dash, MC Ali, ML Rana, YA Munni, L Barua… - International Journal of …, 2020 - mdpi.com
The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound exporter protein
involved in regulating serum HDL level by exporting cholesterol and phospholipids to load …

Risk factors for premature coronary heart disease in women compared to men: systematic review and meta-analysis

A Khoja, PH Andraweera, ZS Lassi, A Ali… - Journal of Women's …, 2023 - liebertpub.com
Background: We aimed to systematically examine literature on the prevalence of known
modifiable and nonmodifiable risk factors for premature coronary heart disease (PCHD) in …