Associated Papers
Functional characterization of genetic variants affecting the intracellular domains of ATP-binding cassette transporter A1 (ABCA1).
Teigen M et al.
Journal of Lipid Research, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
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
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Monti R et al.
Nature Communications, 2022
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Apolipoprotein A-I directly interacts with extracellular domain 1 of human ABCA1.
Kawanobe T et al.
Bioscience, Biotechnology, and Biochemistry, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Peripheral neuropathy in Tangier disease: A literature review and assessment.
Mercan M et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Role of apolipoproteins, ABCA1 and LCAT in the biogenesis of normal and aberrant high density lipoproteins.
Zannis VI et al.
Journal of Biomedical Research, 2017
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
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
HDL biogenesis, remodeling, and catabolism.
Zannis VI et al.
Handbook of Experimental Pharmacology, 2015
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK et al.
Plos Genetics, 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
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 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
ATP hydrolysis-dependent conformational changes in the extracellular domain of ABCA1 are associated with apoA-I binding.
Nagao K et al.
Journal of Lipid Research, 2012
The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein.
Tomioka M et al.
Bioscience, Biotechnology, and Biochemistry, 2012
Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts.
Nakagawa H et al.
Journal of Pharmaceutical Sciences, 2011
ABC transporters, atherosclerosis and inflammation.
Fitzgerald ML et al.
Atherosclerosis, 2010
Tangier disease phenotype diversity in dizygous twin sisters.
Pichit P et al.
Revue Neurologique, 2010
The genetics of high-density lipoprotein metabolism: clinical relevance for therapeutic approaches.
Strang AC et al.
The American Journal of Cardiology, 2009
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease.
Maekawa M et al.
Atherosclerosis, 2009
Sodium taurocholate-dependent lipid efflux by ABCA1: effects of W590S mutation on lipid translocation and apolipoprotein A-I dissociation.
Nagao K et al.
Journal of Lipid Research, 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
The ABCA1 Q597R mutant undergoes trafficking from the ER upon ER stress.
Tanaka AR et al.
Biochemical and Biophysical Research Communications, 2008
Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects.
Kiss RS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
ABCA1: at the nexus of cholesterol, HDL and atherosclerosis.
Attie AD
Trends in Biochemical Sciences, 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
Apolipoprotein A-I activates Cdc42 signaling through the ABCA1 transporter.
Nofer JR et al.
Journal of Lipid Research, 2006
Role of apoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL.
Zannis VI et al.
Journal of Molecular Medicine (berlin, Germany), 2006
ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease.
Oram JF et al.
Physiological Reviews, 2005
Screening for functional sequence variations and mutations in ABCA1.
Probst MC et al.
Atherosclerosis, 2004
Alpha1-syntrophin modulates turnover of ABCA1.
Munehira Y et al.
The Journal of Biological Chemistry, 2004
Probing the pathways of chylomicron and HDL metabolism using adenovirus-mediated gene transfer.
Zannis VI et al.
Current Opinion in Lipidology, 2004
Cross-linking and lipid efflux properties of apoA-I mutants suggest direct association between apoA-I helices and ABCA1.
Chroni A et al.
Biochemistry, 2004
ABCA1 and amphipathic apolipoproteins form high-affinity molecular complexes required for cholesterol efflux.
Fitzgerald ML et al.
Journal of Lipid Research, 2004
ATP-binding cassette transporter A1: regulation of cholesterol efflux.
Knight BL
Biochemical Society Transactions, 2004