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Wong, Lee-Jun C.

Mitochondrial Disorders Caused by Nuclear Genes

Wong, Lee-Jun C. - Mitochondrial Disorders Caused by Nuclear Genes, ebook

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ISBN: 9781461437222
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Table of contents

1. The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders
Salvatore DiMauro, Valentina Emmanuele

2. Biochemical and Molecular Methods for the Study of Mitochondrial Disorders
Lee-Jun C. Wong

3. Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions
Matthew J. Young, William C. Copeland

4. Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease
Russell P. Saneto, Bruce H. Cohen

5. Deoxyguanosine Kinase
David Paul Dimmock

6.
MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome
Ayman W. El-Hattab

7. Mitochondrial DNA Depletion due to Mutations in the TK2 Gene
Fernando Scaglia

8. Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)
Margherita Milone

9. Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability
Patrick Yu-Wai-Man, Guy Lenaers, Patrick F. Chinnery

10. Depletion of mtDNA with MMA: SUCLA2 and SUCLG1

Nelson Hawkins, Brett H. Graham

11.
RRM2B-Related Mitochondrial Disease
Gráinne S. Gorman, Robert D. S. Pitceathly, Douglass M. Turnbull, Robert W. Taylor

12. Complex Subunits and Assembly Genes: Complex I
Ann Saada (Reisch)

13. Mitochondrial Respiratory Chain Complex II
Jaya Ganesh, Lee-Jun C. Wong, Elizabeth B. Gorman

14. Mitochondrial Complex III Deficiency of Nuclear Origin:
Alberto Blázquez, Lorena Marín-Buera, María Morán, Alberto García-Bartolomé, Joaquín Arenas, Miguel A. Martín, Cristina Ugalde

15. Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases
Flavia Fontanesi, Antoni Barrientos

16. Mitochondrial Aminoacyl-tRNA Synthetases
Henna Tyynismaa

17. Mitochondrial Protein Translation-Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors
Brett H. Graham

18. Disorders of Mitochondrial RNA Modification
William J. Craigen

19. Pyruvate Dehydrogenase Complex Deficiencies
Suzanne D. DeBrosse, Douglas S. Kerr

20. Nuclear Genes Causing Mitochondrial Cardiomyopathy
Stephanie M. Ware, Jeffrey A. Towbin

21. Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins
Lisbeth Tranebjærg

Keywords: Biomedicine, Human Genetics, Molecular Medicine, Biomedicine general

Author(s)
Publisher
Springer
Publication year
2013
Language
en
Edition
2013
Page amount
353 pages
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9781461437222

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