Mitochondrial disorders : biochemical and molecular analysis / [edited by] Lee-Jun C. Wong
- 其他作者：
- 出版： New York : Humana Press :Springer c2012
- 叢書名： Methods in molecular biology; ;837 , Springer protocols
- 主題： Mitochondrial pathology. , Mitochondrial Diseases--diagnosis--Laboratory Manuals , Mitochondrial Diseases--genetics--Laboratory Manuals , DNA, Mitochondrial--analysis--Laboratory Manuals , Molecular Diagnostic Techniques--Laboratory Manuals , Labortechnik , Mitochondriopathie
- ISBN： 9781617795039 (hbk.) :: US$146.02 、 1617795038 (hbk.) 、 9781617795046 (ebk.)
- 一般註：Includes bibliographical references and index
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讀者標籤：
- 系統號： 005201259 | 機讀編目格式
館藏資訊
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 BiologyTM 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.
內容註
Mitochondrial DNA mutations : an overview of clinical and molecular aspects / William J. Craigen -- Nuclear gene defects in mitochondrial disorders / Fernando Scaglia -- Diagnostic challenges of mitochondrial disorders : complexities of two genomes / Brett H. Graham -- Biochemical analyses of the electron transport chain complexes by spectrophotometry / Ann E. Frazier and David R. Thorburn -- Measurement of mitochondrial oxygen consumption using a Clark electrode / Zhihong Li and Brett H. Graham -- Mitochondrial respiratory chain : biochemical analysis and criterion for deficiency in diagnosis / Manuela M. Grazina -- Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity / Douglas Kerr, George Grahame, and Ghunwa Nakouzi -- Assessment of thymidine phosphorylase function : measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity / Ramon Mart? Luis C. L籀pez, and Michio Hirano -- Measurement of mitochondrial dNTP pools / Beatriz Dorado, and Michio Hirano -- Measurement of oxidized and reduced coenzyme Q in biological fluids, cells, and tissues : an HPLC-EC method / Peter H. Tang and Michael V. Miles -- Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS / Si Houn Hahn, Sandra Kerfoot, and Valeria Vasta -- Morphological assessment of mitochondrial respiratory chain function on tissue sections / Kurenai Tanji -- 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 -- Radioactive labeling of mitochondrial translation products in cultured cells / Florin Sasarman and Eric A. Shoubridge -- Transmitochondrial cybrids : tools for functional studies of mutant mitochondria / Sajna Antony Vithayathil, Yewei Ma, and Benny Abraham Kaipparettu -- Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell