Mitochondrial disorders
Subtitle: biochemical and molecular analysis
By: edited by Lee-Jun C. Wong
Series: Methods in molecular biology -- 837; Springer protocols; Methods in molecular biology (Clifton, N.J.) -- v. 837.; Springer protocols
Publisher: Humana Press; Springer
Published: 2012
Place of publication: New York
Language: eng
Number of pages: 352
ISBN-13: 9781617795039; 9781617795046
Subjects: Genetics; Mitochondriopathie; Analysis; Mitochondrial pathology; Mitochondrial DNA; Mitochondrial Diseases; Diagnosis; Labortechnik; Laboratory Manuals; Molecular Diagnostic Techniques
Notes: Includes bibliographical references and index.
Table of contents: title: Mitochondrial DNA mutations : an overview of clinical and molecular aspects / William J. Craigen; title: Nuclear gene defects in mitochondrial disorders / Fernando Scaglia; title: Diagnostic challenges of mitochondrial disorders : complexities of two genomes / Brett H. Graham; title: Biochemical analyses of the electron transport chain complexes by spectrophotometry / Ann E. Frazier and David R. Thorburn; title: Measurement of mitochondrial oxygen consumption using a Clark electrode / Zhihong Li and Brett H. Graham; title: Mitochondrial respiratory chain : biochemical analysis and criterion for deficiency in diagnosis / Manuela M. Grazina; title: Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity / Douglas Kerr, George Grahame, and Ghunwa Nakouzi; title: Assessment of thymidine phosphorylase function : measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity / Ramon Martí, Luis C. López, and Michio Hirano; title: Measurement of mitochondrial dNTP pools / Ramon Martí, Beatriz Dorado, and Michio Hirano; title: Measurement of oxidized and reduced coenzyme Q in biological fluids, cells, and tissues : an HPLC-EC method / Peter H. Tang and Michael V. Miles; title: Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS / Si Houn Hahn, Sandra Kerfoot, and Valeria Vasta; title: Morphological assessment of mitochondrial respiratory chain function on tissue sections / Kurenai Tanji; title: Blue native polyacrylamide gel electrophoresis : a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation / Scot C. Leary; title: Radioactive labeling of mitochondrial translation products in cultured cells / Florin Sasarman and Eric A. Shoubridge; title: Transmitochondrial cybrids : tools for functional studies of mutant mitochondria / Sajna Antony Vithayathil, Yewei Ma, and Benny Abraham Kaipparettu; title: Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines / Stephen Dingley, Kimberly A. Chapman, and Marni J. Falk; title: Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans / Erzsebet Polyak, Zhe Zhang, and Marni J. Falk; title: Analysis of common mitochondrial DNA mutations by allele-specific oligonucleotide and southern blot hybridization / Sha Tang ... [et al.]; title: Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders / Megan L. Landsverk, Megan E. Cornwell, and Meagan E. Palculict; title: Utility of array CGH in molecular diagnosis of mitochondrial disorders / Jing Wang and Mrudula Rakhade; title: Quantification of mtDNA mutation heteroplasmy (ARMS qPCR) / Victor Venegas and Michelle C. Halberg; title: Measurement of mitochondrial DNA copy number / Victor Venegas and Michelle C. Halberg; title: Determination of the clinical significance of an unclassified variant / Victor Wei Zhang and Jing Wang.