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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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MDPI - Multidisciplinary Digital Publishing Institute
2022
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Falguières, Thomas 2022-05-06T11:23:58Z 2022-05-06T11:23:58Z 2022 ONIX_20220506_9783036539447_107 https://directory.doabooks.org/handle/20.500.12854/81041 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. eng bic Book Industry Communication::G Reference, information & interdisciplinary subjects::GP Research & information: general bic Book Industry Communication::P Mathematics & science::PS Biology, life sciences ABC transporters drug action regulatory extension regulatory insertion mechanism of action MRP1 MRP4 breast cancer proliferation migration invasion cAMP ABCG2 ABCB1 blood-brain barrier PET Alzheimer’s disease beta-amyloid tariquidar erlotinib ABCG5 ABCG8 ATP-binding cassette transporter cholesterol polar relay sitosterolemia 5′ untranslated region cis-acting elements ABCA subfamily bioinformatics ABC transporter therapy response disease-free survival next-generation sequencing competitive allele-specific PCR P-glycoprotein amyloid-beta neuron SK-N-SH gene therapy AAV PFIC BSEP ABCB11 bile salts intrahepatic cholestasis chaperones PFIC2 BRIC ATP-binding cassette transporter A1 (ABCA1) cholesterol homeostasis reverse cholesterol transport HDL-C dyslipidemia type 2 diabetes microparticles ABCG2 genotype clinico-genetic analysis ethnic specificity genetic variations precision medicine rare variant Roma serum uric acid SUA-lowering therapy urate transporter bile secretion ABCB4 ABCC2 ABCG5/G8 molecular partners phytosterol xenosterol atherosclerosis gall stone ABC transporter ABC (ATP-binding cassette) transporters multidrug resistance transport trafficking urate mutations polymorphisms ABCC6 TNAP NT5E Pseudoxanthoma elasticum (PXE) cancer membrane protein functional divergence calcification pseudoxanthoma elasticum generalized arterial calcification of infancy pyrophosphate therapies ABCA7 phagocytosis Aβ peptides yeast multidrug transporter anticancer antifungal resistance mechanism peroxisome adrenoleukodystrophy fatty acids gout early-onset gout hyperuricemia uric acid BCRP single nucleotide polymorphism SNP homology modeling substrate-binding site cellular ATP efflux mutagenesis intracellular traffic MDR3 phosphatidylcholine RAB GTPase taxol drug transport n/a ABC Transporters in Human Diseases book 10.3390/books978-3-0365-3943-0 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036539447 9783036539430 494 Basel MDPI - Multidisciplinary Digital Publishing Institute |
| institution |
DOAB |
| collection |
Directory of Open Access Books |
| title |
ABC Transporters in Human Diseases |
| spellingShingle |
ABC Transporters in Human Diseases bic Book Industry Communication::G Reference, information & interdisciplinary subjects::GP Research & information: general bic Book Industry Communication::P Mathematics & science::PS Biology, life sciences ABC transporters drug action regulatory extension regulatory insertion mechanism of action MRP1 MRP4 breast cancer proliferation migration invasion cAMP ABCG2 ABCB1 blood-brain barrier PET Alzheimer’s disease beta-amyloid tariquidar erlotinib ABCG5 ABCG8 ATP-binding cassette transporter cholesterol polar relay sitosterolemia 5′ untranslated region cis-acting elements ABCA subfamily bioinformatics ABC transporter therapy response disease-free survival next-generation sequencing competitive allele-specific PCR P-glycoprotein amyloid-beta neuron SK-N-SH gene therapy AAV PFIC BSEP ABCB11 bile salts intrahepatic cholestasis chaperones PFIC2 BRIC ATP-binding cassette transporter A1 (ABCA1) cholesterol homeostasis reverse cholesterol transport HDL-C dyslipidemia type 2 diabetes microparticles ABCG2 genotype clinico-genetic analysis ethnic specificity genetic variations precision medicine rare variant Roma serum uric acid SUA-lowering therapy urate transporter bile secretion ABCB4 ABCC2 ABCG5/G8 molecular partners phytosterol xenosterol atherosclerosis gall stone ABC transporter ABC (ATP-binding cassette) transporters multidrug resistance transport trafficking urate mutations polymorphisms ABCC6 TNAP NT5E Pseudoxanthoma elasticum (PXE) cancer membrane protein functional divergence calcification pseudoxanthoma elasticum generalized arterial calcification of infancy pyrophosphate therapies ABCA7 phagocytosis Aβ peptides yeast multidrug transporter anticancer antifungal resistance mechanism peroxisome adrenoleukodystrophy fatty acids gout early-onset gout hyperuricemia uric acid BCRP single nucleotide polymorphism SNP homology modeling substrate-binding site cellular ATP efflux mutagenesis intracellular traffic MDR3 phosphatidylcholine RAB GTPase taxol drug transport n/a |
| title_short |
ABC Transporters in Human Diseases |
| title_full |
ABC Transporters in Human Diseases |
| title_fullStr |
ABC Transporters in Human Diseases |
| title_full_unstemmed |
ABC Transporters in Human Diseases |
| title_sort |
abc transporters in human diseases |
| author_corporate |
Falguières, Thomas |
| author_facet |
Falguières, Thomas |
| topic |
bic Book Industry Communication::G Reference, information & interdisciplinary subjects::GP Research & information: general bic Book Industry Communication::P Mathematics & science::PS Biology, life sciences ABC transporters drug action regulatory extension regulatory insertion mechanism of action MRP1 MRP4 breast cancer proliferation migration invasion cAMP ABCG2 ABCB1 blood-brain barrier PET Alzheimer’s disease beta-amyloid tariquidar erlotinib ABCG5 ABCG8 ATP-binding cassette transporter cholesterol polar relay sitosterolemia 5′ untranslated region cis-acting elements ABCA subfamily bioinformatics ABC transporter therapy response disease-free survival next-generation sequencing competitive allele-specific PCR P-glycoprotein amyloid-beta neuron SK-N-SH gene therapy AAV PFIC BSEP ABCB11 bile salts intrahepatic cholestasis chaperones PFIC2 BRIC ATP-binding cassette transporter A1 (ABCA1) cholesterol homeostasis reverse cholesterol transport HDL-C dyslipidemia type 2 diabetes microparticles ABCG2 genotype clinico-genetic analysis ethnic specificity genetic variations precision medicine rare variant Roma serum uric acid SUA-lowering therapy urate transporter bile secretion ABCB4 ABCC2 ABCG5/G8 molecular partners phytosterol xenosterol atherosclerosis gall stone ABC transporter ABC (ATP-binding cassette) transporters multidrug resistance transport trafficking urate mutations polymorphisms ABCC6 TNAP NT5E Pseudoxanthoma elasticum (PXE) cancer membrane protein functional divergence calcification pseudoxanthoma elasticum generalized arterial calcification of infancy pyrophosphate therapies ABCA7 phagocytosis Aβ peptides yeast multidrug transporter anticancer antifungal resistance mechanism peroxisome adrenoleukodystrophy fatty acids gout early-onset gout hyperuricemia uric acid BCRP single nucleotide polymorphism SNP homology modeling substrate-binding site cellular ATP efflux mutagenesis intracellular traffic MDR3 phosphatidylcholine RAB GTPase taxol drug transport n/a |
| topic_facet |
bic Book Industry Communication::G Reference, information & interdisciplinary subjects::GP Research & information: general bic Book Industry Communication::P Mathematics & science::PS Biology, life sciences ABC transporters drug action regulatory extension regulatory insertion mechanism of action MRP1 MRP4 breast cancer proliferation migration invasion cAMP ABCG2 ABCB1 blood-brain barrier PET Alzheimer’s disease beta-amyloid tariquidar erlotinib ABCG5 ABCG8 ATP-binding cassette transporter cholesterol polar relay sitosterolemia 5′ untranslated region cis-acting elements ABCA subfamily bioinformatics ABC transporter therapy response disease-free survival next-generation sequencing competitive allele-specific PCR P-glycoprotein amyloid-beta neuron SK-N-SH gene therapy AAV PFIC BSEP ABCB11 bile salts intrahepatic cholestasis chaperones PFIC2 BRIC ATP-binding cassette transporter A1 (ABCA1) cholesterol homeostasis reverse cholesterol transport HDL-C dyslipidemia type 2 diabetes microparticles ABCG2 genotype clinico-genetic analysis ethnic specificity genetic variations precision medicine rare variant Roma serum uric acid SUA-lowering therapy urate transporter bile secretion ABCB4 ABCC2 ABCG5/G8 molecular partners phytosterol xenosterol atherosclerosis gall stone ABC transporter ABC (ATP-binding cassette) transporters multidrug resistance transport trafficking urate mutations polymorphisms ABCC6 TNAP NT5E Pseudoxanthoma elasticum (PXE) cancer membrane protein functional divergence calcification pseudoxanthoma elasticum generalized arterial calcification of infancy pyrophosphate therapies ABCA7 phagocytosis Aβ peptides yeast multidrug transporter anticancer antifungal resistance mechanism peroxisome adrenoleukodystrophy fatty acids gout early-onset gout hyperuricemia uric acid BCRP single nucleotide polymorphism SNP homology modeling substrate-binding site cellular ATP efflux mutagenesis intracellular traffic MDR3 phosphatidylcholine RAB GTPase taxol drug transport n/a |
| publishDate |
2022 |
| language |
Inglês |
| publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
| format |
Livro |
| description |
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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| isbn |
9783036539447 |
| url |
https://directory.doabooks.org/handle/20.500.12854/81041 |
| _version_ |
1732147227840741376 |