pubmed-article:17035501 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0000768 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0002871 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0013935 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0927232 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0039848 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0243070 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C1422628 | lld:lifeskim |
pubmed-article:17035501 | lifeskim:mentions | umls-concept:C0333668 | lld:lifeskim |
pubmed-article:17035501 | pubmed:issue | 43 | lld:pubmed |
pubmed-article:17035501 | pubmed:dateCreated | 2006-10-25 | lld:pubmed |
pubmed-article:17035501 | pubmed:abstractText | SLC25A19 mutations cause Amish lethal microcephaly (MCPHA), which markedly retards brain development and leads to alpha-ketoglutaric aciduria. Previous data suggested that SLC25A19, also called DNC, is a mitochondrial deoxyribonucleotide transporter. We generated a knockout mouse model of Slc25a19. These animals had 100% prenatal lethality by embryonic day 12. Affected embryos at embryonic day 10.5 have a neural-tube closure defect with ruffling of the neural fold ridges, a yolk sac erythropoietic failure, and elevated alpha-ketoglutarate in the amniotic fluid. We found that these animals have normal mitochondrial ribo- and deoxyribonucleoside triphosphate levels, suggesting that transport of these molecules is not the primary role of SLC25A19. We identified thiamine pyrophosphate (ThPP) transport as a candidate function of SLC25A19 through homology searching and confirmed it by using transport assays of the recombinant reconstituted protein. The mitochondria of Slc25a19(-/-) and MCPHA cells have undetectable and markedly reduced ThPP content, respectively. The reduction of ThPP levels causes dysfunction of the alpha-ketoglutarate dehydrogenase complex, which explains the high levels of this organic acid in MCPHA and suggests that mitochondrial ThPP transport is important for CNS development. | lld:pubmed |
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pubmed-article:17035501 | pubmed:language | eng | lld:pubmed |
pubmed-article:17035501 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17035501 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:17035501 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:17035501 | pubmed:month | Oct | lld:pubmed |
pubmed-article:17035501 | pubmed:issn | 0027-8424 | lld:pubmed |
pubmed-article:17035501 | pubmed:author | pubmed-author:MathewsChrist... | lld:pubmed |
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pubmed-article:17035501 | pubmed:author | pubmed-author:ChenAmyA | lld:pubmed |
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pubmed-article:17035501 | pubmed:author | pubmed-author:SongShiweiS | lld:pubmed |
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pubmed-article:17035501 | pubmed:author | pubmed-author:StruysEduardE | lld:pubmed |
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pubmed-article:17035501 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:17035501 | pubmed:day | 24 | lld:pubmed |
pubmed-article:17035501 | pubmed:volume | 103 | lld:pubmed |
pubmed-article:17035501 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:17035501 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:17035501 | pubmed:pagination | 15927-32 | lld:pubmed |
pubmed-article:17035501 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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pubmed-article:17035501 | pubmed:year | 2006 | lld:pubmed |
pubmed-article:17035501 | pubmed:articleTitle | Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. | lld:pubmed |
pubmed-article:17035501 | pubmed:affiliation | National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. marjr@mail.nih.gov | lld:pubmed |
pubmed-article:17035501 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:17035501 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
pubmed-article:17035501 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
pubmed-article:17035501 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
pubmed-article:17035501 | pubmed:publicationType | Research Support, N.I.H., Intramural | lld:pubmed |
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