Mitochondrial Disorders Caused by Nuclear Genes

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Wong, Lee-Jun C. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: New York, NY : Springer New York : Imprint: Springer, 2013.
Edición:1st ed. 2013.
Temas:
Medical genetics.
Medicine-Research.
Biology-Research.
Medical Genetics.
Biomedical Research.
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • Part 1: Overview
  • The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders
  • Biochemical and Molecular Methods for the Study of Mitochondrial Disorders
  • Part 2: Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity
  • Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions
  • Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease
  • Deoxyguanosine Kinase
  • MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome
  • Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)
  • Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability
  • Depletion of mtDNA with MMA: SUCLA2 and SUCLG1
  • RRM2B-Related Mitochondrial Disease
  • Part 3: Complex Subunits and Assembly Genes
  • Complex Subunits and Assembly Genes: Complex I
  • Mitochondrial Respiratory Chain Complex II
  • Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models
  • Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases
  • Part 4: Mitochondrial Protein Translation Related Diseases
  • Mitochondrial Aminoacyl-tRNA Synthetases
  • Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors
  • Disorders of Mitochondrial RNA Modification
  • Part 5: Others
  • Pyruvate Dehydrogenase Complex Deficiencies
  • Nuclear Genes Causing Mitochondrial Cardiomyopathy
  • Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins
  • Index.

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