Associated Papers
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.
Teigen M et al.
Journal of Lipid Research, 2024
ANGPTL3 (Angiopoietin-Like 3) Preferentially Resides on High-Density Lipoprotein in the Human Circulation, Affecting Its Activity.
Kraaijenhof JM et al.
Journal of the American Heart Association, 2023
Activity and Structural Dynamics of Human ABCA1 in a Lipid Membrane.
Plummer-Medeiros AM et al.
Journal of Molecular Biology, 2023
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
ABCA7, a Genetic Risk Factor Associated with Alzheimer's Disease Risk in African Americans.
Stepler KE et al.
Journal of Alzheimer's Disease : Jad, 2022
Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.
Dash R et al.
International Journal of Molecular Sciences, 2020
Importance of genetic background of oxysterol signaling in cancer.
Holy P et al.
Biochimie, 2018
Peripheral neuropathy in Tangier disease: A literature review and assessment.
Mercan M et al.
Journal of the Peripheral Nervous System : Jpns, 2018
PI(4,5)P2 Is Translocated by ABCA1 to the Cell Surface Where It Mediates Apolipoprotein A1 Binding and Nascent HDL Assembly.
Gulshan K et al.
Circulation Research, 2016
HDL biogenesis, remodeling, and catabolism.
Zannis VI et al.
Handbook of Experimental Pharmacology, 2015
Premature atherosclerosis, extremely low HDL-cholesterol and concurrent defects in APOA1 and ABCA1 genes: a family case report.
Koopal C et al.
International Journal of Cardiology, 2014
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.
Marín-Martín FR et al.
Cholesterol, 2014
Sphingomyelin depletion impairs anionic phospholipid inward translocation and induces cholesterol efflux.
Gulshan K et al.
The Journal of Biological Chemistry, 2013
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
Quazi F et al.
The Journal of Biological Chemistry, 2013
ABCA1 mediates unfolding of apolipoprotein AI N terminus on the cell surface before lipidation and release of nascent high-density lipoprotein.
Wang S et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden.
Bochem AE et al.
European Heart Journal, 2013
Plasma amyloid-β in patients with Tangier disease.
Shahim P et al.
Journal of Alzheimer's Disease : Jad, 2013
Anticancer activity of the cholesterol exporter ABCA1 gene.
Smith B et al.
Cell Reports, 2012
Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.
Daniil G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.
Candini C et al.
Atherosclerosis, 2010
Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction.
Vergeer M et al.
Diabetes Care, 2010
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C.
Cameron J et al.
Atherosclerosis, 2010
Adenosine-triphosphate-binding cassette transporter-1 trafficking and function.
Kang MH et al.
Trends in Cardiovascular Medicine, 2010
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease.
Maekawa M et al.
Atherosclerosis, 2009
Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1.
Hozoji M et al.
The Journal of Biological Chemistry, 2009
Severe HDL deficiency due to novel defects in the ABCA1 transporter.
Pisciotta L et al.
Journal of Internal Medicine, 2009
ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation.
Vaughan AM et al.
Journal of Lipid Research, 2009
Quantitative analysis of ABCA1-dependent compartmentalization and trafficking of apolipoprotein A-I: implications for determining cellular kinetics of nascent high density lipoprotein biogenesis.
Hassan HH et al.
The Journal of Biological Chemistry, 2008
Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects.
Kiss RS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.
Singaraja RR et al.
Circulation Research, 2006
New insights into the biogenesis of human high-density lipoproteins.
Krimbou L et al.
Current Opinion in Lipidology, 2006
Apolipoprotein A-I activates Cdc42 signaling through the ABCA1 transporter.
Nofer JR et al.
Journal of Lipid Research, 2006
Characterization of oligomeric human ATP binding cassette transporter A1. Potential implications for determining the structure of nascent high density lipoprotein particles.
Denis M et al.
The Journal of Biological Chemistry, 2004
The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.
Selva DM et al.
Journal of Lipid Research, 2004
Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.
Albrecht C et al.
Biochimica Et Biophysica Acta, 2004
Molecular interactions between apoE and ABCA1: impact on apoE lipidation.
Krimbou L et al.
Journal of Lipid Research, 2004
Apolipoprotein A-I activates cellular cAMP signaling through the ABCA1 transporter.
Haidar B et al.
The Journal of Biological Chemistry, 2004
HDL deficiency and atherosclerosis: lessons from Tangier disease.
Hovingh GK et al.
Journal of Internal Medicine, 2004
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.
Singaraja RR et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2003
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia.
Hovingh GK et al.
Journal of Lipid Research, 2003
Cellular phospholipid and cholesterol efflux in high-density lipoprotein deficiency.
Marcil M et al.
Circulation, 2003
Distinct sites on ABCA1 control distinct steps required for cellular release of phospholipids.
Rigot V et al.
Journal of Lipid Research, 2002
Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.
Fitzgerald ML et al.
The Journal of Biological Chemistry, 2002
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study.
van Dam MJ et al.
Lancet (london, England), 2002