Mitochondrial Disorders : Biochemical and Molecular Analysis /
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| Format: | eBook |
| Language: | English |
| Published: |
Totowa, NJ :
Humana Press : Imprint: Humana,
2012.
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| Edition: | 1st ed. 2012. |
| Series: | Methods in Molecular Biology,
837 |
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Table of Contents:
- 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
- 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 of Mitochondrial Disorders
- Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR)
- Measurement of Mitochondrial DNA Copy Number
- Determination of the Clinical Significance of an Unclassified Variant.