| pubmed-article:19862556 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19862556 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:19862556 | lifeskim:mentions | umls-concept:C0042333 | lld:lifeskim |
| pubmed-article:19862556 | lifeskim:mentions | umls-concept:C1425398 | lld:lifeskim |
| pubmed-article:19862556 | lifeskim:mentions | umls-concept:C1550605 | lld:lifeskim |
| pubmed-article:19862556 | lifeskim:mentions | umls-concept:C0456205 | lld:lifeskim |
| pubmed-article:19862556 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:19862556 | pubmed:dateCreated | 2010-1-21 | lld:pubmed |
| pubmed-article:19862556 | pubmed:abstractText | Given their involvement in processes necessary for life, mitochondrial damage and subsequent dysfunction can lead to a wide range of human diseases. Previous studies of both animal models and humans have suggested that presenilins-associated rhomboid-like protein (PARL) is a key regulator of mitochondrial integrity and function, and plays a role in cellular apoptosis. As a surrogate measure of mitochondrial integrity, we previously measured mitochondrial content in a Caucasian population consisting of large extended pedigrees, with results highlighting a substantial genetic component to this trait. To assess the influence of variation in the PARL gene on mitochondrial content, we re-sequenced 6.5 kb of the gene, identifying 16 SNPs and genotyped these in 1,086 Caucasian individuals, distributed across 170 families. Statistical genetic analysis revealed that one promoter variant, T-191C, exhibited significant effects (after correction for multiple testing) on mitochondrial content levels. Comparison of the transcription factor binding characteristics of the T-191C promoter SNP by EMSA indicates preferential binding of nuclear factors to the T allele, suggesting functional variation in PARL expression. These results suggest that genetic variation within PARL influences mitochondrial abundance and integrity. | lld:pubmed |
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| pubmed-article:19862556 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19862556 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19862556 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19862556 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19862556 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:19862556 | pubmed:issn | 1432-1203 | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:DyerThomas... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:BlangeroJohnJ | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:ComuzzieAntho... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:CollierGregor... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:KissebahAhmed... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:AbrahamLawren... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:MosesEric KEK | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:CurranJoanne... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:JohnsonMatthe... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:WalderKen RKR | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:JowettJeremy... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:ElliottKather... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:DiepeveenLuke... | lld:pubmed |
| pubmed-article:19862556 | pubmed:author | pubmed-author:Kerr-BaylesLy... | lld:pubmed |
| pubmed-article:19862556 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19862556 | pubmed:volume | 127 | lld:pubmed |
| pubmed-article:19862556 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19862556 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19862556 | pubmed:pagination | 183-90 | lld:pubmed |
| pubmed-article:19862556 | pubmed:dateRevised | 2011-7-22 | lld:pubmed |
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