Oxidative Phosphorylation in Health and Disease
Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book inclu
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Oxidative Phosphorylation in Health and Disease Jan AM. Smeitink, M.D., Ph.D. Rob C.A. Sengers, M.D., Ph.D. J.M. Frans Trijbels, Ph.D. Nijmegen Center for Mitochondrial Disorders University Medical Center Nijmegen Department of Pediatrics Nijmegen, The Netherlands
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OXIDATIVE PHOSPHORYLATION IN HEALTH AND DISEASE Medical Intelligence U n i t Landes Bioscience / Eurekah.com Kluwer Academic / Plenum Publishers Copyright ©2004 Eurekah.com / Kluwer Academic / Plenum Publishers All rights reserved. N o part of this book may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any information storage and retrieval system, without permission in writing from the publisher. Printed in the U.S.A. Kluwer Academic / Plenum Publishers, 233 Spring Street, New York, New York, U.S.A. 10013 http://wvsrw.wkap.nl/ Please address all inquiries to the Publishers: Eurekah.com / Landes Bioscience, 810 South Church Street, Georgetown, Texas, U.S.A. 78626 Phone: 512/ 863 7762; FAX: 512/ 863 0081 http://www.eurekah.com http://www.landesbioscience.com ISBN: 0-306-48232-0 Oxidative Phosphorylation in Health and Disease, edited by Jan A.M. Smeitink, Rob C.A. Sengers, J.M. Frans Trijbels. Landes / Kluwer dual imprint / Landes series: Medical Intelligence Unit While the authors, editors and publisher believe that drug selection and dosage and the specifications and usage of equipment and devices, as set forth in this book, are in accord with current recommendations and practice at the time of publication, they make no warranty, expressed or implied, with respect to material described in this book. In view of the ongoing research, equipment development, changes in governmental regulations and the rapid accumulation of information relating to the biomedical sciences, the reader is urged to carefully review and evaluate the information provided herein. Library o f C o n g r e s s C a t a l o g i n g - i n - P u b l i c a t i o n D a t a Oxidative phosphorylation in health and disease / [edited by] Jan A.M. Smeitink, Rob C.A. Sengers, J.M. Frans Trijbels. p. ; cm. ~ (Medical intelligence unit) Includes bibliographical references and index. ISBN 0-306-48232-0 1. Mitochondria. 2. Mitochondrial pathology. 3. Energy metabollain. 4. Oxidation, Physiological. 5. Phosphorylation. I. Smeitink, Jan A. M. II. Sengers, Rob C. A. III. Trijbels, J. M. Frans. IV. Series: Medical intelligence unit (Unnumbered : 2003) [DNLM: 1. Oxidative Phosphorylation. 2. Mitochondrial Diseases. QU 125 0 9 7 5 2004] QH603.M5O895 2004 611'.0181-dc22 2004013658
To all patients suffering from oxidative phosphorylation disorders
CONTENTS Foreword
xiii
1. The Human OXPHOS System: Structure, Function and Physiology Immo E. Schejfler Complexes of the Electron Transport Chain The ATP Synthase Regulation of Oxidative Phosphorylation Assembly of Electron Transport Complexes
2 15 19 20
2.
28
3.
Mole
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