ABC Transporters in Human Diseases

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 h...

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Bibliographic Details
Other Authors: Falguières, Thomas (Editor)
Format: Electronic Book Chapter
Language:English
Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
Subjects:
PET
AAV
ABC
SNP
n/a
Online Access:DOAB: download the publication
DOAB: description of the publication
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520 |a 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. 
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653 |a ABC transporters 
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653 |a regulatory insertion 
653 |a mechanism of action 
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653 |a MRP4 
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653 |a proliferation 
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653 |a ABCB1 
653 |a blood-brain barrier 
653 |a PET 
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653 |a beta-amyloid 
653 |a tariquidar 
653 |a erlotinib 
653 |a ABCG5 
653 |a ABCG8 
653 |a ATP-binding cassette transporter 
653 |a cholesterol 
653 |a polar relay 
653 |a sitosterolemia 
653 |a 5' untranslated region 
653 |a cis-acting elements 
653 |a ABCA subfamily 
653 |a bioinformatics 
653 |a ABC transporter 
653 |a therapy response 
653 |a disease-free survival 
653 |a next-generation sequencing 
653 |a competitive allele-specific PCR 
653 |a P-glycoprotein 
653 |a amyloid-beta 
653 |a neuron 
653 |a SK-N-SH 
653 |a gene therapy 
653 |a AAV 
653 |a PFIC 
653 |a BSEP 
653 |a ABCB11 
653 |a bile salts 
653 |a intrahepatic cholestasis 
653 |a chaperones 
653 |a PFIC2 
653 |a BRIC 
653 |a ATP-binding cassette transporter A1 (ABCA1) 
653 |a cholesterol homeostasis 
653 |a reverse cholesterol transport 
653 |a HDL-C 
653 |a dyslipidemia 
653 |a type 2 diabetes 
653 |a microparticles 
653 |a ABCG2 genotype 
653 |a clinico-genetic analysis 
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653 |a Roma 
653 |a serum uric acid 
653 |a SUA-lowering therapy 
653 |a urate transporter 
653 |a bile secretion 
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653 |a ABCC2 
653 |a ABCG5/G8 
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653 |a phytosterol 
653 |a xenosterol 
653 |a atherosclerosis 
653 |a gall stone 
653 |a ABC 
653 |a transporter 
653 |a ABC (ATP-binding cassette) transporters 
653 |a multidrug resistance 
653 |a transport 
653 |a trafficking 
653 |a urate 
653 |a mutations 
653 |a polymorphisms 
653 |a ABCC6 
653 |a TNAP 
653 |a NT5E 
653 |a Pseudoxanthoma elasticum (PXE) 
653 |a cancer 
653 |a membrane protein 
653 |a functional divergence 
653 |a calcification 
653 |a pseudoxanthoma elasticum 
653 |a generalized arterial calcification of infancy 
653 |a pyrophosphate 
653 |a therapies 
653 |a ABCA7 
653 |a phagocytosis 
653 |a Aβ peptides 
653 |a yeast 
653 |a multidrug transporter 
653 |a anticancer 
653 |a antifungal resistance 
653 |a mechanism 
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653 |a adrenoleukodystrophy 
653 |a fatty acids 
653 |a gout 
653 |a early-onset gout 
653 |a hyperuricemia 
653 |a uric acid 
653 |a BCRP 
653 |a single nucleotide polymorphism 
653 |a SNP 
653 |a homology modeling 
653 |a substrate-binding site 
653 |a cellular ATP efflux 
653 |a mutagenesis 
653 |a intracellular traffic 
653 |a MDR3 
653 |a phosphatidylcholine 
653 |a RAB GTPase 
653 |a taxol 
653 |a drug transport 
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