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rdf:type |
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lifeskim:mentions |
umls-concept:C0019425,
umls-concept:C0025914,
umls-concept:C0026336,
umls-concept:C0026809,
umls-concept:C0031437,
umls-concept:C0205494,
umls-concept:C0206745,
umls-concept:C0392756,
umls-concept:C0521451,
umls-concept:C0699788,
umls-concept:C1424893
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pubmed:issue |
5
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pubmed:dateCreated |
2009-5-11
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pubmed:abstractText |
The Tim23 protein is the key component of the mitochondrial import machinery. It locates to the inner mitochondrial membrane and its own import is dependent on the DDP1/TIM13 complex. Mutations in human DDP1 cause the Mohr-Tranebjaerg syndrome (MTS/DFN-1; OMIM #304700), which is one of the two known human diseases of the mitochondrial protein import machinery. We created a Tim23 knockout mouse from a gene trap embryonic stem cell clone. Homozygous Tim23 mice were not viable. Heterozygous F1 mutants showed a 50% reduction of Tim23 protein in Western blot, a neurological phenotype and a markedly reduced life span. Haploinsufficiency of the Tim23 mutation underlines the critical role of the mitochondrial import machinery for maintaining mitochondrial function.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0006-3002
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pubmed:author |
pubmed-author:AhtingUweU,
pubmed-author:BeckerLoreL,
pubmed-author:BenderAndreasA,
pubmed-author:FlossThomasT,
pubmed-author:FuchsHelmutH,
pubmed-author:Gailus-DurnerValérieV,
pubmed-author:IusoArcangelaA,
pubmed-author:KlingEvaE,
pubmed-author:KlopstockThomasT,
pubmed-author:MeitingerThomasT,
pubmed-author:ProkischHolgerH,
pubmed-author:Schneider-LohmarIlkaI,
pubmed-author:UezNikolasN,
pubmed-author:WurstWolfgangW,
pubmed-author:de AngelisMartin HrabéMH
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pubmed:issnType |
Print
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pubmed:volume |
1787
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
371-6
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pubmed:meshHeading |
pubmed-meshheading:19111522-Animals,
pubmed-meshheading:19111522-Blastocyst,
pubmed-meshheading:19111522-Forelimb,
pubmed-meshheading:19111522-Genotype,
pubmed-meshheading:19111522-Hand Strength,
pubmed-meshheading:19111522-Humans,
pubmed-meshheading:19111522-Life Expectancy,
pubmed-meshheading:19111522-Membrane Proteins,
pubmed-meshheading:19111522-Membrane Transport Proteins,
pubmed-meshheading:19111522-Mice,
pubmed-meshheading:19111522-Mice, Knockout,
pubmed-meshheading:19111522-Mitochondria,
pubmed-meshheading:19111522-Mitochondrial Proteins,
pubmed-meshheading:19111522-Mutation,
pubmed-meshheading:19111522-Orofaciodigital Syndromes,
pubmed-meshheading:19111522-Phenotype,
pubmed-meshheading:19111522-Protein Transport,
pubmed-meshheading:19111522-Rotarod Performance Test
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pubmed:year |
2009
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pubmed:articleTitle |
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
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pubmed:affiliation |
Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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