The Role of Pendrin in Health and Disease Molecular and Functional A
This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health. Pendrin is a membrane transport protein expressed in
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he Role of Pendrin in Health and Disease Molecular and Functional Aspects of the SLC26A4 Anion Exchanger
The Role of Pendrin in Health and Disease
Silvia Dossena • Markus Paulmichl Editors
The Role of Pendrin in Health and Disease Molecular and Functional Aspects of the SLC26A4 Anion Exchanger
Editors Silvia Dossena Paracelsus Medical University Institute of Pharmacology and Toxicology Salzburg Austria
Markus Paulmichl Paracelsus Medical University Institute of Pharmacology and Toxicology Salzburg Austria
ISBN 978-3-319-43285-4 ISBN 978-3-319-43287-8 (eBook) DOI 10.1007/978-3-319-43287-8 Library of Congress Control Number: 2017931637 © Springer International Publishing Switzerland 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
To Florian Lang, for the continuous support and his unconditional enthusiasm, which is an endless source of inspiration
Preface
Disease is the consequence of deranged molecular events affecting the function of cells, tissues, organs and eventually the whole body of living organisms. Therefore, understanding a pathophysiological process often requires a multidisciplinary approach and the joint efforts of scientists from the biochemical, biological, biomedical and clinical fields. The Role of Pendrin in Health and Disease has the peculiarity of focusing on an individual molecule, of which a detailed description of the multifaceted function is provided from different points of view. Pendrin is a protein localized in the plasma membrane of cells in various tissues and organs and transports negatively charged ions. Malfunction of pendrin causes genetically inherited diseases of which hearing loss is the main feature, such as Pendred syndrome and non-syndromic deafness. The main aim of this book is to summarize and cont
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