Search results for "ABCA1 gene"

showing 3 items of 3 documents

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders

2004

Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…

AdultMalemedicine.medical_specialtyHeterozygoteSettore MED/09 - Medicina InternaApolipoprotein BAdolescentPremature coronary artery diseaseTangier diseaseCoronary DiseaseBiologyGene mutationmedicine.disease_causeCompound heterozygosityTangier diseaseInternal medicineGenotypeABCA1 genemedicineHumansChildHypoalphalipoproteinemiaSelection BiasAgedApolipoproteins BGeneticsMutationFamilial defective Apo B (FDB)Apolipoprotein A-ICholesterol HDLnutritional and metabolic diseasesMiddle Agedmedicine.diseaseLipoprotein lipaseTangier disease; Familial HDL deficiency; ABCA1 gene; Familial defective Apo B (FDB); Lipoprotein lipase; Premature coronary artery diseaseEndocrinologyChild PreschoolMutationbiology.proteinlipids (amino acids peptides and proteins)Allelic heterogeneityATP-Binding Cassette TransportersFemaleCardiology and Cardiovascular MedicineFamilial HDL deficiencyATP Binding Cassette Transporter 1
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Rapid degradation of ABCA1 protein following cAMP withdrawal and treatment with PKA inhibitor suggests ABCA1 is a short-lived protein primarily regul…

2020

Objectives: ATP-binding cassette transporter A1 (ABCA1) is a key player in the reverse cholesterol transport (RCT) and HDL biogenesis. Since RCT is compromised as a result of ABCA1 dysfunction in diabetic state, the objective of this study was to investigate the regulation of ABCA1 in a stably transfected 293 cells expressing ABCA1 under the control of cAMP response element. Methods: To delineate transcriptional and posttranscriptional regulation of ABCA1, 293 cells were stably transfected with the full length ABCA1 cDNA under the control of CMV promoter harboring cAMP response element. cAMP-mediated regulation of ABCA1 and cholesterol efflux were studied in the presence of 8-Br-cAMP and af…

0301 basic medicineEndocrinology Diabetes and MetabolismResponse elementABCA1030209 endocrinology & metabolismDiabeteProtein kinase03 medical and health sciences0302 clinical medicinecAMPpolycyclic compoundsInternal MedicineABCA1 GeneMedicinecardiovascular diseasesProtein kinase Abiologybusiness.industryReverse cholesterol transportHEK 293 cellsnutritional and metabolic diseaseshemic and immune systemsTransfectionCell biology030104 developmental biologyCell cultureABCA1biology.proteinlipids (amino acids peptides and proteins)Stably transfectedbusinessRegulationResearch ArticleJournal of Diabetes & Metabolic Disorders
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Adherence to the mediterranean diet modulates the association between the abca1 gene, plasma lipids and diabetes in a high-risk population

2014

medicine.medical_specialtyeducation.field_of_studyMediterranean dietbusiness.industryPopulationmedicine.diseaseEndocrinologyInternal medicineDiabetes mellitusPlasma lipidsmedicineABCA1 GeneCardiology and Cardiovascular MedicineeducationbusinessAtherosclerosis
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