| pubmed-article:11000270 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0035723 | lld:lifeskim |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0162735 | lld:lifeskim |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0596988 | lld:lifeskim |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0392756 | lld:lifeskim |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0205360 | lld:lifeskim |
| pubmed-article:11000270 | lifeskim:mentions | umls-concept:C0450254 | lld:lifeskim |
| pubmed-article:11000270 | pubmed:issue | 19 | lld:pubmed |
| pubmed-article:11000270 | pubmed:dateCreated | 2000-9-29 | lld:pubmed |
| pubmed-article:11000270 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11000270 | pubmed:abstractText | Point mutations in mitochondrial tRNA genes are responsible for individual subgroups of mitochondrial encephalomyopathies. We have recently reported that point mutations in the tRNA(Leu)(UUR) and tRNA(Lys) genes cause a defect in the normal modification at the first nucleotide of the anticodon. As part of a systematic analysis of pathogenic mutant mitochondrial tRNAs, we purified tRNA(Ile) with a point mutation at nucleotide 4269 to determine its nucleotide sequence, including modified nucleotides. We found that, instead of causing a defect in the post-transcriptional modification, a pathogenic point mutation in the mitochondrial tRNA(Ile) reduced the stability of the mutant tRNA molecule, resulting in a low steady-state level of aminoacyl-tRNA. The reduced stability was confirmed by examining the life-span of the mutant tRNA(Ile) both in vitro and in vivo, as well as by monitoring its melting profile. Our finding indicates that the mutant tRNA(Ile) itself is intrinsically unstable. | lld:pubmed |
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| pubmed-article:11000270 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11000270 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11000270 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11000270 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11000270 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11000270 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11000270 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11000270 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:11000270 | pubmed:issn | 1362-4962 | lld:pubmed |
| pubmed-article:11000270 | pubmed:author | pubmed-author:SuzukiTT | lld:pubmed |
| pubmed-article:11000270 | pubmed:author | pubmed-author:WatanabeKK | lld:pubmed |
| pubmed-article:11000270 | pubmed:author | pubmed-author:HinzAA | lld:pubmed |
| pubmed-article:11000270 | pubmed:author | pubmed-author:UedaTT | lld:pubmed |
| pubmed-article:11000270 | pubmed:author | pubmed-author:OhtaSS | lld:pubmed |
| pubmed-article:11000270 | pubmed:author | pubmed-author:YasukawaTT | lld:pubmed |
| pubmed-article:11000270 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:11000270 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:11000270 | pubmed:volume | 28 | lld:pubmed |
| pubmed-article:11000270 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11000270 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11000270 | pubmed:pagination | 3779-84 | lld:pubmed |
| pubmed-article:11000270 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:11000270 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11000270 | pubmed:articleTitle | A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile). | lld:pubmed |
| pubmed-article:11000270 | pubmed:affiliation | Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan. | lld:pubmed |
| pubmed-article:11000270 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11000270 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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