Source:http://linkedlifedata.com/resource/pubmed/id/20385238
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2010-8-4
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pubmed:abstractText |
Defective mitochondrial DNA (mtDNA) replication is a common cause of human disease in children and adults. mtDNA replication relies on a large set of nuclear-encoded proteins that either belong to the replication machinery itself, or participate in the nucleotide pool regulation. Identification of patient mutations in the corresponding genes has revealed that dysfunctional mtDNA replication can cause highly variable disease phenotypes. We describe here the strategies that have been undertaken to generate mouse models for mtDNA replication diseases. Such models are essential tools for understanding the consequences of mtDNA replication defects on different tissues and on the metabolism of the whole organism.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1095-9130
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pubmed:author | |
pubmed:copyrightInfo |
Copyright (c) 2010 Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
405-10
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pubmed:meshHeading |
pubmed-meshheading:20385238-Animals,
pubmed-meshheading:20385238-DNA, Mitochondrial,
pubmed-meshheading:20385238-DNA Replication,
pubmed-meshheading:20385238-Disease Models, Animal,
pubmed-meshheading:20385238-Gene Targeting,
pubmed-meshheading:20385238-Humans,
pubmed-meshheading:20385238-Mice,
pubmed-meshheading:20385238-Mice, Transgenic,
pubmed-meshheading:20385238-Mitochondria,
pubmed-meshheading:20385238-Mitochondrial Diseases,
pubmed-meshheading:20385238-Mutation,
pubmed-meshheading:20385238-Phenotype
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pubmed:year |
2010
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pubmed:articleTitle |
Mouse models of mtDNA replication diseases.
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pubmed:affiliation |
Biomedicum Helsinki, Research Programme of Molecular Neurology, University of Helsinki, Finland.
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
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