Keywords
Citation
(2012), "The ABC Transporters of Human Physiology and Disease – The Genetics and Biochemistry of ATP Binding Cassette", International Journal of Health Care Quality Assurance, Vol. 25 No. 3. https://doi.org/10.1108/ijhcqa.2012.06225caa.017
Publisher
:Emerald Group Publishing Limited
Copyright © 2012, Emerald Group Publishing Limited
The ABC Transporters of Human Physiology and Disease – The Genetics and Biochemistry of ATP Binding Cassette
The ABC Transporters of Human Physiology and Disease – The Genetics and Biochemistry of ATP Binding Cassette
Article Type: Recent publications From: International Journal of Health Care Quality Assurance, Volume 25, Issue 3
Kenneth J. Linton and I. Barry Holland,World Scientific Publishing Co Pte Ltd,2011,ISBN: 978-9-814-28006-8
Keywords: Human physiology and disease, Disease management, Integral membrane proteins
ATP Binding Cassette (ABC) transporters are a family of integral membrane proteins that are likely to be represented in all the cells of all species of archaea, eubacteria and eukaryota. The vast majority of these proteins control the transport of molecules (from small hydrophilic ions to lipids and proteins) across cellular membranes. The human genome encodes 48 ABC transporters and most have been shown to underlie one or more human diseases. This book – that brings together state-of-the-art knowledge on proteins in one volume – will provide students, professors and medical professionals with a background to the human ABC transporters that are known to be relevant to diseases. Each of the 14 chapters is written by a leading researcher in the field and includes contributions from Joe Bryan and Lydia Aguilar-Bryan, Kazu Ueda, Jack Riordan and Robert Tampe. The genetics, structure and function of the proteins, and the future direction of research including the implications for human health are discussed in depth.
Contents include:
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Structure and mechanism of ABC transporters.
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ABCA1-mediated HDL formation.
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Bile formation, the enterohepatic circulation and cholestasis.
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Deciphering the role of human efflux proteins in cellular and tissue permeability the photoreceptor ABC transporter and its role in inherited retinal degenerative diseases.
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ABCs in immunity – the antigen translocation machinery.
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The ABCs of mitochondrial metabolic disorders.
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The role of ABCC family members for the disposition of endogenous compounds and drugs.
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ABC transporter mutations in heritable skin diseases.
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CFTR, elucidating the basis and influencing the outcome of a major genetic disease.
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Physiology and pathology of ABCC8.
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Getting into the peroxisome with the ABCD family.
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ABC transporters and sterol homeostasis.
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Hot topics, including: multidrug transporters in stem cells and cancer stem cells; targeting regulation of ABC transporters; nuclear receptors involved in regulating bile flow.
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Gene and small molecule therapy for cystic fibrosis.