LEADER 06225nam 2201837z- 450 001 9910674029103321 005 20231214133253.0 035 $a(CKB)5680000000037744 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/81041 035 $a(EXLCZ)995680000000037744 100 $a20202205d2022 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aABC Transporters in Human Diseases 210 $aBasel$cMDPI - Multidisciplinary Digital Publishing Institute$d2022 215 $a1 electronic resource (494 p.) 311 $a3-0365-3944-1 311 $a3-0365-3943-3 330 $aMammalian 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. 606 $aResearch & information: general$2bicssc 606 $aBiology, life sciences$2bicssc 610 $aABC transporters 610 $adrug action 610 $aregulatory extension 610 $aregulatory insertion 610 $amechanism of action 610 $aMRP1 610 $aMRP4 610 $abreast cancer 610 $aproliferation 610 $amigration 610 $ainvasion 610 $acAMP 610 $aABCG2 610 $aABCB1 610 $ablood-brain barrier 610 $aPET 610 $aAlzheimer's disease 610 $abeta-amyloid 610 $atariquidar 610 $aerlotinib 610 $aABCG5 610 $aABCG8 610 $aATP-binding cassette transporter 610 $acholesterol 610 $apolar relay 610 $asitosterolemia 610 $a5' untranslated region 610 $acis-acting elements 610 $aABCA subfamily 610 $abioinformatics 610 $aABC transporter 610 $atherapy response 610 $adisease-free survival 610 $anext-generation sequencing 610 $acompetitive allele-specific PCR 610 $aP-glycoprotein 610 $aamyloid-beta 610 $aneuron 610 $aSK-N-SH 610 $agene therapy 610 $aAAV 610 $aPFIC 610 $aBSEP 610 $aABCB11 610 $abile salts 610 $aintrahepatic cholestasis 610 $achaperones 610 $aPFIC2 610 $aBRIC 610 $aATP-binding cassette transporter A1 (ABCA1) 610 $acholesterol homeostasis 610 $areverse cholesterol transport 610 $aHDL-C 610 $adyslipidemia 610 $atype 2 diabetes 610 $amicroparticles 610 $aABCG2 genotype 610 $aclinico-genetic analysis 610 $aethnic specificity 610 $agenetic variations 610 $aprecision medicine 610 $arare variant 610 $aRoma 610 $aserum uric acid 610 $aSUA-lowering therapy 610 $aurate transporter 610 $abile secretion 610 $aABCB4 610 $aABCC2 610 $aABCG5/G8 610 $amolecular partners 610 $aphytosterol 610 $axenosterol 610 $aatherosclerosis 610 $agall stone 610 $aABC 610 $atransporter 610 $aABC (ATP-binding cassette) transporters 610 $amultidrug resistance 610 $atransport 610 $atrafficking 610 $aurate 610 $amutations 610 $apolymorphisms 610 $aABCC6 610 $aTNAP 610 $aNT5E 610 $aPseudoxanthoma elasticum (PXE) 610 $acancer 610 $amembrane protein 610 $afunctional divergence 610 $acalcification 610 $apseudoxanthoma elasticum 610 $ageneralized arterial calcification of infancy 610 $apyrophosphate 610 $atherapies 610 $aABCA7 610 $aphagocytosis 610 $aA? peptides 610 $ayeast 610 $amultidrug transporter 610 $aanticancer 610 $aantifungal resistance 610 $amechanism 610 $aperoxisome 610 $aadrenoleukodystrophy 610 $afatty acids 610 $agout 610 $aearly-onset gout 610 $ahyperuricemia 610 $auric acid 610 $aBCRP 610 $asingle nucleotide polymorphism 610 $aSNP 610 $ahomology modeling 610 $asubstrate-binding site 610 $acellular ATP efflux 610 $amutagenesis 610 $aintracellular traffic 610 $aMDR3 610 $aphosphatidylcholine 610 $aRAB GTPase 610 $ataxol 610 $adrug transport 615 7$aResearch & information: general 615 7$aBiology, life sciences 700 $aFalguie?res$b Thomas$4edt$01338092 702 $aFalguie?res$b Thomas$4oth 906 $aBOOK 912 $a9910674029103321 996 $aABC Transporters in Human Diseases$93057848 997 $aUNINA