Mitochondrial Disorders Biochemical and Molecular Analysis
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 sys...
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| Format: | eBook |
| Language: | English |
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Totowa, NJ
Humana
2012, 2012
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| Edition: | 1st ed. 2012 |
| Series: | Methods in Molecular Biology
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| Subjects: | |
| Online Access: | |
| Collection: | Springer eBooks 2005- - Collection details see MPG.ReNa |
Table of Contents:
- Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections
- Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation
- Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells
- Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria
- Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines
- Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans
- Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization
- Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders
- Utility of Array CGH in Molecular Diagnosis ofMitochondrial Disorders
- Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR)
- Measurement of Mitochondrial DNA Copy Number
- Determination of the Clinical Significance of an Unclassified Variant
- Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects
- Nuclear Gene Defects in Mitochondrial Disorders
- Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes
- Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry
- Measurement of Mitochondrial Oxygen Consumption Using A Clark Electrode
- Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis
- Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity
- Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphosphorylase Activity
- Measurement of Mitochondrial dNTP Pools
- Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method
- Assay to Measure Oxidized and Reduced Forms of CoQ by LC-MS/MS