Search results for "Transporters"

showing 3 items of 203 documents

Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics.

2009

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 (ALD) gene. The ABCD2 gene, its closest homolog, has been shown to compensate for ABCD1 deficiency when overexpressed. We previously demonstrated that the ABCD2 promoter contains a functional thyroid hormone response element. Thyroid hormone (T3) through its receptor TRbeta can induce hepatic Abcd2 expression in rodents and transiently normalize the VLCFA level in fibroblasts of Abcd1 null mice. In a therapeutic perspective, the use of selective agonists of TRbeta should present the advantage to be devoid of side effects, at least concerning the cardiotoxicity associated to TRalpha activation. I…

medicine.medical_specialtyThyroid HormonesEndocrinology Diabetes and MetabolismClinical BiochemistryBiologyAcetatesATP Binding Cassette Transporter Subfamily DTransfectionBiochemistryEndocrinologyDownregulation and upregulationPhenolsInternal medicinePeroxisomal disorderGene expressionChlorocebus aethiopsmedicineAnimalsHumansReceptorAdrenoleukodystrophyMolecular BiologyHormone response elementReporter geneGlyoxylatesCell BiologyTransfectionmedicine.diseaseCell biologyRatsUp-RegulationEndocrinologyCOS CellsMolecular MedicineTriiodothyronineAdrenoleukodystrophyATP-Binding Cassette TransportersThe Journal of steroid biochemistry and molecular biology
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Constitutive androstane receptor activation stimulates faecal bile acid excretion and reverse cholesterol transport in mice.

2010

The constitutive androstane receptor (CAR) is a nuclear receptor expressed in the liver and involved in xenobiotic metabolism. The aim of this study was to assess whether pharmacological CAR activation could affect neutral sterol and bile acid elimination under conditions of cholesterol overload.Wild type, Car-/-, ApoE-/-, and low-density lipoprotein receptor (Ldlr)-/- mice fed a western-type diet were treated with the CAR agonist TCPOBOP.CAR activation was associated with a decrease in faecal cholesterol output related to the repression of the Abcg5/g8 cholesterol transporters. In contrast, TCPOBOP treatment induced a marked increase (up to three fold, p0.01) in the elimination of faecal b…

medicine.medical_specialtymedicine.drug_classPyridinesLipoproteinsBiological Transport ActiveGene ExpressionReceptors Cytoplasmic and NuclearHyperlipidemiasBiologyCholesterol 7 alpha-hydroxylaseBile Acids and Saltschemistry.chemical_compoundFecesMiceApolipoproteins EInternal medicineConstitutive androstane receptormedicineAnimalsHomeostasisATP Binding Cassette Transporter Subfamily G Member 5Liver X receptorConstitutive Androstane ReceptorMice KnockoutHepatologyBile acidCholesterolReverse cholesterol transportATP Binding Cassette Transporter Subfamily G Member 8Cholesterol HDLAtherosclerosisSterolMice Inbred C57BLEndocrinologyCholesterolchemistryLiverReceptors LDLLDL receptorlipids (amino acids peptides and proteins)ATP-Binding Cassette TransportersJournal of hepatology
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Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options

2014

Background Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important. Patient and methods A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C > T (Arg 1561 Stop) mutation of the ABCA3 gene was identifie…

medicine.medical_specialtymedicine.medical_treatmentGenes RecessiveDiseaseGene mutationABCA3Fatal OutcomeAdrenal Cortex HormonesInternal medicinemedicineHumansLung transplantationTreatment FailureIntensive care medicineChromosome AberrationsRespiratory Distress Syndrome NewbornLungbiologybusiness.industryHomozygoteInfant NewbornInterstitial lung diseaseInfantHydroxychloroquinemedicine.diseasePathophysiologymedicine.anatomical_structureMutationPediatrics Perinatology and Child HealthCodon Terminatorbiology.proteinATP-Binding Cassette TransportersFemaleMacrolidesLung Diseases InterstitialRespiratory InsufficiencybusinessHydroxychloroquinemedicine.drugKlinische Pädiatrie
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