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Mitochondrial Disorders

Overview of attention for book
Cover of 'Mitochondrial Disorders'

Table of Contents

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    Book Overview
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    Chapter 1 Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects
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    Chapter 2 Nuclear gene defects in mitochondrial disorders.
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    Chapter 3 Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes
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    Chapter 4 Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry
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    Chapter 5 Measurement of Mitochondrial Oxygen Consumption Using a Clark Electrode
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    Chapter 6 Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis
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    Chapter 7 Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity
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    Chapter 8 Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphorylase Activity.
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    Chapter 9 Measurement of Mitochondrial dNTP Pools.
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    Chapter 10 Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method
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    Chapter 11 Assay to Measure Oxidized and Reduced Forms of CoQ by LC–MS/MS
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    Chapter 12 Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections
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    Chapter 13 Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation
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    Chapter 14 Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells
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    Chapter 15 Transmitochondrial cybrids: tools for functional studies of mutant mitochondria.
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    Chapter 16 Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines
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    Chapter 17 Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans.
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    Chapter 18 Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization
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    Chapter 19 Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders.
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    Chapter 20 Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders
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    Chapter 21 Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR)
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    Chapter 22 Measurement of mitochondrial DNA copy number.
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    Chapter 23 Determination of the Clinical Significance of an Unclassified Variant
Attention for Chapter 9: Measurement of Mitochondrial dNTP Pools.
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Chapter title
Measurement of Mitochondrial dNTP Pools.
Chapter number 9
Book title
Mitochondrial Disorders
Published in
Methods in molecular biology, January 2012
DOI 10.1007/978-1-61779-504-6_9
Pubmed ID
22215545
Book ISBNs
978-1-61779-503-9, 978-1-61779-504-6
Authors

Ramon Martí, Beatriz Dorado, Michio Hirano, Martí, Ramon, Dorado, Beatriz, Hirano, Michio

Abstract

Because deoxyribonucleoside triphosphates (dNTPs) are the critical substrates for DNA replication and repair, dNTP pools have been studied in context of multiple basic biochemical processes. Over the last 12 years, interest in dNTPs, and specifically the mitochondrial dNTP pools, has expanded to biomedical science because several mitochondrial diseases have been found to be caused by dysfunctions of several enzymes involved in dNTP catabolism or anabolism. Techniques to reliably measure mitochondrial dNTPs should be sensitive and specific to avoid interference caused by the abundant ribonucleotides. Here, we describe detailed protocols to measure mitochondrial dNTPs from two specific samples, cultured skin fibroblasts and mouse liver. The methods can be easily adapted to other types of samples. The protocol follows a polymerase-based method, which is the most widely used approach to measure dNTP pools. Our description is based on the latest update of the technique, which minimizes the potential interference from ribonucleotides.

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X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
 Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Hungary 1 4%
Unknown 27 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 39%
Student > Ph. D. Student 9 32%
Student > Bachelor 2 7%
Student > Master 2 7%
Professor 1 4%
Other 3 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 14 50%
Biochemistry, Genetics and Molecular Biology 8 29%
Chemical Engineering 1 4%
Immunology and Microbiology 1 4%
Medicine and Dentistry 1 4%
Other 1 4%
Unknown 2 7%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 January 2012.
All research outputs
#20,153,989
of 22,661,413 outputs
Outputs from Methods in molecular biology
#9,799
of 13,020 outputs
Outputs of similar age
#221,135
of 244,044 outputs
Outputs of similar age from Methods in molecular biology
#423
of 473 outputs
Altmetric has tracked 22,661,413 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 13,020 research outputs from this source. They receive a mean Attention Score of 3.3. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 473 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.

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