Search results for " apob"

showing 5 items of 5 documents

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and fam…

2017

Background The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. Objective A direct comparison of lipid phenotypes of these 2 conditions has never been carried out. In addition, although an increased prevalence of liver steatosis in FHBL1 has been consistently reported, the hepatic consequences of FHBL2 are not well established. Methods We investigated 350 subjects, 67 heterozygous carriers of APOB mutations, 63 carriers of the p.S17* mutation in ANGPTL3 (57 heterozygotes and …

0301 basic medicineMaleHepatic steatosisSettore MED/09 - Medicina InternaApolipoprotein BEndocrinology Diabetes and Metabolism030204 cardiovascular system & hematologymedicine.disease_causeANGPTL3 gene; APOB gene; Familial combined hypolipidemia; Familial hypobetalipoproteinemia; HDL cholesterol; Hepatic steatosis; Low cholesterol syndromesHypobetalipoproteinemiasExon0302 clinical medicineHDL cholesterolANGPTL3Nutrition and DieteticFamilial hypobetalipoproteinemiaGeneticsMutationNutrition and Dieteticsbiologyhepatic steatosisHomozygoteANGPTL3 geneMiddle AgedLow cholesterol syndromesPhenotypePhenotypelipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicineANGPTL3 gene; APOB gene; familial combined hypolipidemia; familial hypobetalipoproteinemia; HDL cholesterol; hepatic steatosis; low cholesterol syndromesmedicine.medical_specialtyHeterozygoteLow cholesterol syndromeHepatic steatosi03 medical and health sciencesInternal medicineInternal MedicinemedicineHumansAPOB geneFamilial combined hypolipidemiaGeneAgedAngiopoietin-Like Protein 3Apolipoproteins Bbusiness.industryHeterozygote advantagemedicine.disease030104 developmental biologyEndocrinologyAngiopoietin-like ProteinsMutationbiology.proteinlow cholesterol syndromesSteatosisbusiness
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Genetics of familial hypobetalipoproteinemia

2007

Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codominant familial hypobetalipoproteinemia (FHBL), the rare recessive conditions abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD). Approximately 50% of FHBL patients are carriers of mutations in the APOB gene, mostly causing the formation of truncated forms of ApoB. In some kindred, FHBL is linked to a locus on chromosome 3 (3p21), but the candidate gene is still unknown. Recently, a FHBL-like phenotype was observed in carriers of mutations of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene causing loss-of-function of the encoded protein, a proprotein convertase tha…

hypobetalipoproteinemia; abetalipoproteinemia; Chylomicron retention diaseaseSettore MED/09 - Medicina InternaApolipoprotein BAssembly and secretion of ApoB-containing lipoproteinsApoB-containing lipoproteinsBiochemistryMicrosomal triglyceride transfer proteinabetalipoproteinemiaChylomicron retention diaseasemedicineFamilial hypobetalipoproteinemiaGeneticsbiologyPCSK9AbetalipoproteinemiahypobetalipoproteinemiaChylomicron retention diseasemedicine.diseaseProprotein convertaseAbetalipoproteinemiaLDL receptorbiology.proteinlipids (amino acids peptides and proteins)HypobetalipoproteinemiaAbetalipoproteinemia; ApoB-containing lipoproteins; Assembly and secretion of ApoB-containing lipoproteins; Chylomicron retention disease; Familial hypobetalipoproteinemiaChylomicron retention disease
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Oxidative Stress and Antioxidant Levels in Patients with Anorexia Nervosa after Oral Re-alimentation: A Systematic Review and Exploratory Meta-analys…

2015

Oxidative stress markers seem to be higher in patients with anorexia nervosa (AN) than healthy controls, but the potentially beneficial effects of weight gain is not known. We calculated random effects standardised mean differences (SMDs) as effect size measures of oxidative stress marker changes after re-alimentation reported in two or more studies, summarising others descriptively. Seven longitudinal studies (n = 104) were included. After a median follow-up period of 8 weeks, AN patients significantly increased their body mass index (15.1 ± 2.1 to 17.1 ± 2.2, p < 0.0001). This weight gain was followed by a significant increase in serum levels of the antioxidant albumin (studies = 6, SM…

oxidative streantioxidantSuperoxide DismutaseMedicine (all)weight gainCatalaseAntioxidantsanorexia nervosaOxidative StressClinical PsychologyPsychiatry and Mental HealthAlbuminsApolipoprotein B-100albumin; anorexia nervosa; antioxidant; ApoB; oxidative stress; refeeding; weight gain; Albumins; Anorexia Nervosa; Antioxidants; Apolipoprotein B-100; Biomarkers; Catalase; Humans; Longitudinal Studies; Superoxide Dismutase; Weight Gain; Oxidative Stress; Clinical Psychology; Psychiatry and Mental Health; Medicine (all)HumansLongitudinal StudiesApoBApoB; albumin; anorexia nervosa; antioxidant; oxidative stress; refeeding; weight gainBiomarkersalbuminrefeeding
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Induction of body weight loss through RNAi-knockdown of APOBEC1 gene expression in transgenic rabbits

2014

In the search of new strategies to fight against obesity, we targeted a gene pathway involved in energy uptake. We have thus investigated the APOB mRNA editing protein (APOBEC1) gene pathway that is involved in fat absorption in the intestine. The APOB gene encodes two proteins, APOB100 and APOB48, via the editing of a single nucleotide in the APOB mRNA by the APOBEC1 enzyme. The APOB48 protein is mandatory for the synthesis of chylomicrons by intestinal cells to transport dietary lipids and cholesterol. We produced transgenic rabbits expressing permanently and ubiquitously a small hairpin RNA targeting the rabbit APOBEC1 mRNA. These rabbits exhibited a moderately but significantly reduced …

perte de poidsobesityApolipoprotein BAgricultural BiotechnologyGene Expressionlcsh:MedicinetransgenesisSmall hairpin RNAAnimals Genetically Modified0302 clinical medicinesirnaRNA interferenceGene expressionGene Knockdown TechniquesBiologie de la reproductionMedicine and Health SciencesTransgenesIntestinal MucosaRNA Small Interferinglcsh:Science[SDV.BDD]Life Sciences [q-bio]/Development Biology2. Zero hunger0303 health sciencesGene knockdownReproductive BiologyMultidisciplinarybiologyGenetically Modified OrganismsBiologie du développementapobec1; obesity; editing apob; apob100; apob48; chylomicron; intestine; rabbit; sirna; transgenesis; knockdownchylomicronknockdownAgricultureInherited Metabolic DisordersDevelopment BiologyobésitéCholesterolPhenotypeTransgenic Engineering[ SDV.BDLR ] Life Sciences [q-bio]/Reproductive BiologyLiverapobapob48Gene Knockdown Techniquesanimal transgéniqueRNA Interferencelipids (amino acids peptides and proteins)RabbitsGenetic EngineeringResearch ArticleBiotechnologyexpression géniqueTransgeneAPOBEC-1 DeaminaseMolecular Sequence DatarabbitDiet High-Fat03 medical and health sciencesintestinCytidine DeaminaseWeight Loss[SDV.BDD] Life Sciences [q-bio]/Development BiologyAnimalsHumanslapinRNA Messenger[ SDV.BDD ] Life Sciences [q-bio]/Development BiologyintestineTriglycerides[SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology030304 developmental biologyapobec1Base SequenceGenetically Modified AnimalsAPOBEC1editinglcsh:RBiology and Life Sciences[SDV.BDLR]Life Sciences [q-bio]/Reproductive BiologyMolecular biologyapob100DyslipidemiaMetabolic Disordersbiology.proteinlcsh:QRNA EditingApolipoprotein B-48030217 neurology & neurosurgery
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Pathogenesis and autoimmunity initiated by a viral protein-induced apoptotic bodies

2016

Ihmisen parvovirus B19 (B19) on laajalle levinnyt, yleinen virus, joka aiheuttaa lapsissa parvorokkoa (viides tauti). Aikuisille B19 aiheuttaa erinäisiä sairauksia, muun muassa nivelkipuja ja – tulehdusta, anemiaa, sekä raskaana oleville sikiöpöhöä. Lisäksi B19 infektio saattaa johtaa autoimmuunisairauksiin, kuten punahukkaan (systemic lupus erythematosus, SLE), nivelreumaan ja sydänlihastulehdukseen. Toisaalta infektio voi olla myös täysin oireeton. Mekanismit, jotka johtavat B19 tartunnasta autoimmuunisairauteen, ovat vielä tuntemattomia. Kuitenkin tiedetään, että B19:n ei-rakenteellinen proteiini NS1 on soluille tuhoisa ja aiheuttaa niiden kuoleman (apoptoosin) muodostaen solunjäännösten…

punahukkaIhmisen parvovirus B19virusesautoimmunitySLEvasta-aineetvirus diseasesanti-dsDNA antibodiesautoimmuniteettiparvorokkoDNA-vasta-aineetApoBoditNS1 ApoBodsparvoviruksetHuman parvovirus B19
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