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Oxidative Phosphorylation in Health and Disease

  • Book
  • © 2005

Overview

Authors:
  1. Jan A. M. Smeitink

    1. Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders University Medical Center Nijmegen, Nijmegen, The Netherlands

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  2. Rob C. A. Sengers

    1. Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders University Medical Center Nijmegen, Nijmegen, The Netherlands

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  3. J. M. Frans Trijbels

    1. Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders University Medical Center Nijmegen, Nijmegen, The Netherlands

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  • Oxidative Phosphorylation in Health and Disease includes up-to-date research on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies.
  • Includes supplementary material: sn.pub/extras

Part of the book series: Medical Intelligence Unit (MIUN)

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Table of contents (12 chapters)

  1. Front Matter

    Pages i-xiv
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  2. The Human OXPHOS System

    • Immo E. Scheffler
    Pages 1-27

  3. Molecular Biology of the OXPHOS System

    • Richard C. Scarpulla
    Pages 28-42

  4. Clinical Diagnosis of Oxidative Phosphorylation Disorders

    • Robert McFarland, Patrick F. Chinnery, Robert W. Taylor, Andrew M. Schaefer, Douglass M. Turnbull
    Pages 43-52

  5. Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders

    • Martin Lammens, Henk ter Laak
    Pages 53-78

  6. Biochemical Diagnosis of OXPHOS Disorders

    • J. M. Frans Trijbels, Antoon J. M. Janssen, Lambert P. van den Heuvel, Rob C. A. Sengers, Jan A. M. Smeitink
    Pages 79-94

  7. Mitochondrial DNA and OXPHOS Disorders

    • Massimo Zeviani, Valerio Carelli
    Pages 95-116

  8. Nuclear DNA and Oxidative Phosphorylation

    • Lambert P. van den Heuvel, Jan A. M. Smeitink
    Pages 117-129

  9. Cell Biological Consequences of OXPHOS Disorders

    • Werner J. H. Koopman, Henk-Jan Visch, Sjoerd Verkaart, Peter H. G. M. Willems
    Pages 130-148

  10. Animal Models of OXPHOS Disorders

    • Nicole Hance, Nils-Göran Larsson
    Pages 149-169

  11. Therapeutic Options in OXPHOS Disorders

    • Rob C. A. Sengers, J. M. Frans Trijbels, Carolien C. A. Boelen, Eva Morava, Jan A. M. Smeitink
    Pages 170-175

  12. Prenatal Diagnostics in Oxidative Phosphorylation Disorders

    • Antoon J. M. Janssen, Letitia E. M. Niers, Lambert P. van den Heuvel, Jan A. M. Smeitink, Rob C. A. Sengers, J. M. Frans Trijbels
    Pages 176-186

  13. Future Developments in the Laboratory Diagnosis of OXPHOS Disorders

    • David R. Thorburn
    Pages 187-199

  14. Back Matter

    Pages 201-205
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Keywords

About this book

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 includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.

Reviews

From the reviews of the first edition:

"There has been a great advance in the past 60 years in the understanding of mitochondrial genetics … . The current volume opens with two chapters on the basic biochemistry and molecular biology of the human OXPHOS, which are followed by seven chapters on the clinical aspects of oxidative phosphorylation disorders including animal models. … A very interesting read for all concerned with this subject from the researcher to the clinician." (P. B. Gahan, Cell Biochemistry and Function, Vol. 24 (2), 2006)

Authors and Affiliations

  • Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders University Medical Center Nijmegen, Nijmegen, The Netherlands

    Jan A. M. Smeitink, Rob C. A. Sengers, J. M. Frans Trijbels

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