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Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential. Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided…mehr

Produktbeschreibung
Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential. Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided by leading experts in the field. Beginning with overviews of complexity of mitochondrial and nuclear genome disorders, the book continues with a section devoted to current biochemical protocols and a part focused on the DNA-based approaches used to identify molecular defects. Written in the highly successful Methods in Molecular Biology(TM) series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Detailed and authoritative, Mitochondrial Disorders: Biochemical and Molecular Analysis serves as a vital guide to researchers seeking to understand this incredibly complicated type of breakdown in cellular biology.
  • Produktdetails
  • Methods in Molecular Biology .837
  • Verlag: Springer, Berlin
  • Artikelnr. des Verlages: 80020559
  • Erscheinungstermin: 4. Januar 2012
  • Englisch
  • Abmessung: 263mm x 187mm x 25mm
  • Gewicht: 830g
  • ISBN-13: 9781617795039
  • ISBN-10: 1617795038
  • Artikelnr.: 33948710
Inhaltsangabe
Part I: Mitochondrial Disorder: A Complex Disease of the Two Genomes 1. Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects William J. Craigen 2. Nuclear Gene Defects in Mitochondrial Disorders Fernando Scaglia 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders 3. Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes Brett H. Graham Part II: Biochemical Analysis of Mitochondrial Disorders 4. Biochemical Analyses of the Electr on Transport Chain Complexes by Spectrophotometry 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Ann E. Frazier and David R. Thorburn 5. Measurement of Mitochondrial Oxygen Consumption Using A Clark Electrode Zhihong Li and Brett H. Graham 6. Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Manuela M. Grazina 7. Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Douglas Kerr, George Grahame, and Ghunwa Nakouzi 8. Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphosphorylase Activity 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Ramon Martí, Luis C. López, and Michio Hirano 9. Measurement of Mitochondrial dNTP Pools 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Ramon Martí, Beatriz Dorado, and Michio Hirano 10. Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Peter H. Tang and Michael V. Miles11. Assay to Measure Oxidized and Reduced Forms of CoQ by LC-MS/MS 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Si Houn Hahn, Sandra Kerfoot, and Valeria Vasta 12. Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Kurenai Tanji 13. Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Scot C. Leary 14. Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Florin Sasarman and Eric A. Shoubridge 15. Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Sajna Antony Vithayathil, Yewei Ma, and Benny Abraham Kaipparettu 16. Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Stephen Dingley, Kimberly A. Chapman, and Marni J. Falk 17. Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Erzsebet Polyak, Zhe Zhang, and Marni J. Falk Part III: Molecular Analysis of Mitochondrial Disorders 18. Ana