| pubmed-article:11018246 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11018246 | lifeskim:mentions | umls-concept:C1516506 | lld:lifeskim |
| pubmed-article:11018246 | lifeskim:mentions | umls-concept:C1510411 | lld:lifeskim |
| pubmed-article:11018246 | lifeskim:mentions | umls-concept:C0022541 | lld:lifeskim |
| pubmed-article:11018246 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:11018246 | pubmed:dateCreated | 2000-11-21 | lld:pubmed |
| pubmed-article:11018246 | pubmed:abstractText | Kearns-Sayre syndrome (KSS) is a sporadic multisystem disorder due to a defect of oxidative phosphorylation and associated with clonally-expanded rearrangements of mitochondrial DNA (mtDNA) deletions (Delta-mtDNAs) and/or duplications (dup-mtDNAs). To gain further insight into the pathogenesis of CNS dysfunction in KSS, we studied the choroid plexus from two autoptic cases using in situ hybridization (ISH) of mtDNA, and immunohistochemistry to detect mtDNA and nuclear DNA-encoded subunits of the respiratory chain. Neuropathological examination of both cases showed oncocytic transformation of choroid plexus epithelial cells. In the same cells, ISH demonstrated that the predominant species of mtDNA were Delta-mtDNAs, and immunohistochemistry showed a decreased expression of mtDNA-encoded proteins. We suggest that mitochondrial abnormalities due to the presence of abundant Delta-mtDNAs in the choroid plexus play an important role in causing the increased cerebrospinal fluid (CSF) protein and reduced folic-acid levels that are characteristic of KSS. | lld:pubmed |
| pubmed-article:11018246 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11018246 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11018246 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11018246 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11018246 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11018246 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11018246 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11018246 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11018246 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:11018246 | pubmed:issn | 0022-510X | lld:pubmed |
| pubmed-article:11018246 | pubmed:author | pubmed-author:DiMauroSS | lld:pubmed |
| pubmed-article:11018246 | pubmed:author | pubmed-author:BonillaEE | lld:pubmed |
| pubmed-article:11018246 | pubmed:author | pubmed-author:SchonE AEA | lld:pubmed |
| pubmed-article:11018246 | pubmed:author | pubmed-author:TanjiKK | lld:pubmed |
| pubmed-article:11018246 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11018246 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:11018246 | pubmed:volume | 178 | lld:pubmed |
| pubmed-article:11018246 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11018246 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11018246 | pubmed:pagination | 29-36 | lld:pubmed |
| pubmed-article:11018246 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:meshHeading | pubmed-meshheading:11018246... | lld:pubmed |
| pubmed-article:11018246 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11018246 | pubmed:articleTitle | Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium. | lld:pubmed |
| pubmed-article:11018246 | pubmed:affiliation | Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA. | lld:pubmed |
| pubmed-article:11018246 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11018246 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:11018246 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:11018246 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11018246 | lld:pubmed |
