| pubmed-article:11054533 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11054533 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:11054533 | lifeskim:mentions | umls-concept:C0016719 | lld:lifeskim |
| pubmed-article:11054533 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:11054533 | lifeskim:mentions | umls-concept:C0013138 | lld:lifeskim |
| pubmed-article:11054533 | lifeskim:mentions | umls-concept:C1334043 | lld:lifeskim |
| pubmed-article:11054533 | pubmed:issue | 1-2 | lld:pubmed |
| pubmed-article:11054533 | pubmed:dateCreated | 2000-12-6 | lld:pubmed |
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| pubmed-article:11054533 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11054533 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11054533 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11054533 | pubmed:abstractText | A putative Drosophila homolog of the Friedreich's ataxia disease gene (FRDA) has been cloned and characterized; it has been named Drosophila frataxin homolog (dfh). It is located at 8C/D position on X chromosome and is spread over 1kb, a much smaller genomic region than the human gene. Its genomic organization is simple, with a single intron dividing the coding region into two exons. The predicted encoded product has 190 amino acids, being considered a frataxin-like protein on the basis of the sequence and secondary structure conservation when compared with human frataxin and related proteins from other eukaryotes. The closest match between the Drosophila and the human proteins involved a stretch of 38 amino acids at C-terminus, encoded by dfh exon 2, and exons 4 and 5a of the FRDA gene, respectively. This highly conserved region is very likely to form a functional domain with a beta sheet structure flanked by alpha-helices where the sequence is less conserved. A signal peptide for mitochondrial import has also been predicted in the Drosophila frataxin-like protein, suggesting its mitochondrial localization, as occurs for human frataxin and other frataxin-like proteins described in eukaryotes. The Drosophila gene is expressed throughout the development of this organism, with a peak of expression in 6-12h embryos, and showing a spatial ubiquitous pattern from 4h embryos to the last embryonic stage examined. The isolation of dfh will soon make available specific dfh mutants that help in understanding the pathogenesis of FRDA. | lld:pubmed |
| pubmed-article:11054533 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11054533 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11054533 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11054533 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11054533 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11054533 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11054533 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:11054533 | pubmed:issn | 0378-1119 | lld:pubmed |
| pubmed-article:11054533 | pubmed:author | pubmed-author:NavarroJ AJA | lld:pubmed |
| pubmed-article:11054533 | pubmed:author | pubmed-author:MooreS ESE | lld:pubmed |
| pubmed-article:11054533 | pubmed:author | pubmed-author:PalatGG | lld:pubmed |
| pubmed-article:11054533 | pubmed:author | pubmed-author:CañizaresJJ | lld:pubmed |
| pubmed-article:11054533 | pubmed:author | pubmed-author:MonrósEE | lld:pubmed |
| pubmed-article:11054533 | pubmed:author | pubmed-author:BlancaJ MJM | lld:pubmed |
| pubmed-article:11054533 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11054533 | pubmed:day | 3 | lld:pubmed |
| pubmed-article:11054533 | pubmed:volume | 256 | lld:pubmed |
| pubmed-article:11054533 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11054533 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11054533 | pubmed:pagination | 35-42 | lld:pubmed |
| pubmed-article:11054533 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:11054533 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11054533 | pubmed:articleTitle | dfh is a Drosophila homolog of the Friedreich's ataxia disease gene. | lld:pubmed |
| pubmed-article:11054533 | pubmed:affiliation | Departament de Genètica, Facultat de Ciències Biológiques, Universitat de València, 46100, Burjassot, Spain. | lld:pubmed |
| pubmed-article:11054533 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11054533 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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