06258nam 2201861z- 450 991067402910332120220506(CKB)5680000000037744(oapen)https://directory.doabooks.org/handle/20.500.12854/81041(oapen)doab81041(EXLCZ)99568000000003774420202205d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierABC Transporters in Human DiseasesBaselMDPI - Multidisciplinary Digital Publishing Institute20221 online resource (494 p.)3-0365-3944-1 3-0365-3943-3 Mammalian ATP-binding cassette (ABC) transporters constitute a superfamily of proteins involved in many essential cellular processes. Most of these transporters are transmembrane proteins and allow the active transport of solutes, small molecules, and lipids across biological membranes. On the one hand, some of these transporters are involved in drug resistance (also referred to as MDR or multidrug resistance), a process known to be a major brake in most anticancer treatments, and the medical challenge is thus to specifically inhibit their function. On the other hand, molecular defects in some of these ABC transporters are correlated with several rare human diseases, the most well-documented of which being cystic fibrosis, which is caused by genetic variations in ABCC7/CFTR (cystic fibrosis transmembrane conductance regulator). In the latter case, the goal is to rescue the function of the deficient transporters using various means, such as targeted pharmacotherapies and cell or gene therapy. The aim of this Special Issue, "ABC Transporters in Human Diseases", is to present, through original articles and reviews, the state-of-the-art of our current knowledge about the role of ABC transporters in human diseases and the proposed therapeutic options based on studies ranging from cell and animal models to patients.Biology, life sciencesbicsscResearch & information: generalbicssc5' untranslated regionAAVABCABC (ATP-binding cassette) transportersABC transporterABC transportersABCA subfamilyABCA7ABCB1ABCB11ABCB4ABCC2ABCC6ABCG2ABCG2 genotypeABCG5ABCG5/G8ABCG8adrenoleukodystrophyAlzheimer's diseaseamyloid-betaanticancerantifungal resistanceatherosclerosisATP-binding cassette transporterATP-binding cassette transporter A1 (ABCA1)Aβ peptidesBCRPbeta-amyloidbile saltsbile secretionbioinformaticsblood-brain barrierbreast cancerBRICBSEPcalcificationcAMPcancercellular ATP effluxchaperonescholesterolcholesterol homeostasiscis-acting elementsclinico-genetic analysiscompetitive allele-specific PCRdisease-free survivaldrug actiondrug transportdyslipidemiaearly-onset gouterlotinibethnic specificityfatty acidsfunctional divergencegall stonegene therapygeneralized arterial calcification of infancygenetic variationsgoutHDL-Chomology modelinghyperuricemiaintracellular trafficintrahepatic cholestasisinvasionMDR3mechanismmechanism of actionmembrane proteinmicroparticlesmigrationmolecular partnersMRP1MRP4multidrug resistancemultidrug transportermutagenesismutationsn/aneuronnext-generation sequencingNT5EP-glycoproteinperoxisomePETPFICPFIC2phagocytosisphosphatidylcholinephytosterolpolar relaypolymorphismsprecision medicineproliferationpseudoxanthoma elasticumPseudoxanthoma elasticum (PXE)pyrophosphateRAB GTPaserare variantregulatory extensionregulatory insertionreverse cholesterol transportRomaserum uric acidsingle nucleotide polymorphismsitosterolemiaSK-N-SHSNPSUA-lowering therapysubstrate-binding sitetariquidartaxoltherapiestherapy responseTNAPtraffickingtransporttransportertype 2 diabetesurateurate transporteruric acidxenosterolyeastBiology, life sciencesResearch & information: generalFalguières Thomasedt1338092Falguières ThomasothBOOK9910674029103321ABC Transporters in Human Diseases3057848UNINA