Mitochondrial Disorders : Biochemical and Molecular Analysis - Wong, Lee-Jun C.; SpringerLink (Online service) (Totowa, NJ : Humana Press : Imprint: Humana, 2012)
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.
Keywords: Cell biology; Laboratory medicine; Cell Biology; Laboratory Medicine