| pubmed-article:15986334 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0682526 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0751651 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0949610 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C2826170 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0024779 | lld:lifeskim |
| pubmed-article:15986334 | lifeskim:mentions | umls-concept:C0679209 | lld:lifeskim |
| pubmed-article:15986334 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:15986334 | pubmed:dateCreated | 2005-8-10 | lld:pubmed |
| pubmed-article:15986334 | pubmed:abstractText | Mitochondrial diseases may be caused by numerous mutations that alter proteins of the respiratory chain and of other metabolic pathways in the mitochondrium. For clinicians this disease group poses a considerable diagnostic challenge due to ambiguous genotype-phenotype relationships. Until now, only 30% of the mitochondriopathies can be diagnosed at the molecular level. We therefore need a new diagnostic tool that offers a wide view on the mitochondrial proteins. Here, we present a method to generate a high-resolution, large-gel two-dimensional gel electrophoretic (2-DE) map of a purified fraction of mitochondrial proteins from Epstein-Barr virus-immortalized lymphoblastoid cell line (LCL). LCLs can be easily obtained from patients and control subjects in a routine clinical setting. They often express the biochemical phenotype and can be cultured to high cell numbers, sufficient to gain enough purified material for 2-DE. In total we identified 166 mitochondrial proteins. Thirteen proteins were earlier not known to be of mitochondrial origin. Thirty-nine proteins were associated with human diseases ranging from respiratory chain enzyme deficiencies to disorders of beta-oxidation and amino acid metabolism. This 2-DE map is intended to be the first step to diagnose mitochondrial diseases at the proteomic level. | lld:pubmed |
| pubmed-article:15986334 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15986334 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15986334 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15986334 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15986334 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15986334 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:15986334 | pubmed:issn | 1615-9853 | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:NeitzelHeidem... | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:KloseJoachimJ | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:SchuelkeMarku... | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:HaebelSophieS | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:XieJingJ | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:TechritzSandr... | lld:pubmed |
| pubmed-article:15986334 | pubmed:author | pubmed-author:HornAnkeA | lld:pubmed |
| pubmed-article:15986334 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15986334 | pubmed:volume | 5 | lld:pubmed |
| pubmed-article:15986334 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15986334 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15986334 | pubmed:pagination | 2981-99 | lld:pubmed |
| pubmed-article:15986334 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:meshHeading | pubmed-meshheading:15986334... | lld:pubmed |
| pubmed-article:15986334 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15986334 | pubmed:articleTitle | A two-dimensional electrophoretic map of human mitochondrial proteins from immortalized lymphoblastoid cell lines: a prerequisite to study mitochondrial disorders in patients. | lld:pubmed |
| pubmed-article:15986334 | pubmed:affiliation | Department of Neuropediatrics, Charité, University Medical Center, Berlin, Germany. | lld:pubmed |
| pubmed-article:15986334 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15986334 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15986334 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15986334 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15986334 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15986334 | lld:pubmed |
