| pubmed-article:10395799 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10395799 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:10395799 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:10395799 | lifeskim:mentions | umls-concept:C1412274 | lld:lifeskim |
| pubmed-article:10395799 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:10395799 | lifeskim:mentions | umls-concept:C1880022 | lld:lifeskim |
| pubmed-article:10395799 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:10395799 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:10395799 | pubmed:dateCreated | 1999-8-30 | lld:pubmed |
| pubmed-article:10395799 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10395799 | pubmed:abstractText | We recently identified a gene responsible for an autosomal recessive form of hereditary spastic paraplegia (HSP). This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial ATPases Afg3p and Rcalp, which have both proteolytic and chaperone-like activities at the inner mitochondrial membrane. By screening the Expressed Sequence Tag database, we identified and characterized a novel human cDNA, ATPase family gene 3-like 2 (AFG3L2, Human Gene Nomenclature Committee-approved symbol), which is closely related to paraplegin. This cDNA encodes a 797-amino-acid predicted protein highly similar to paraplegin as well as to yeast Afg3p and Rca1p. Immunofluorescence studies revealed that AFG3L2 and paraplegin share a similar expression pattern and the same subcellular localization, the mitochondrial compartment. We subsequently mapped AFG3L2 to chromosome 18p11 by radiation hybrid analysis. AFG3L2 may represent a candidate gene for other forms of HSPs and possibly for other neurodegenerative disorders. | lld:pubmed |
| pubmed-article:10395799 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10395799 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10395799 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10395799 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:10395799 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10395799 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10395799 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:10395799 | pubmed:issn | 0888-7543 | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:FrancoBB | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:BallabioAA | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:BanfiSS | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:CasariGG | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:BassiM TMT | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:ZanottaSS | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:MarchitielloA... | lld:pubmed |
| pubmed-article:10395799 | pubmed:author | pubmed-author:AndolfiGG | lld:pubmed |
| pubmed-article:10395799 | pubmed:copyrightInfo | Copyright 1999 Academic Press. | lld:pubmed |
| pubmed-article:10395799 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10395799 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:10395799 | pubmed:volume | 59 | lld:pubmed |
| pubmed-article:10395799 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10395799 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10395799 | pubmed:pagination | 51-8 | lld:pubmed |
| pubmed-article:10395799 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:10395799 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10395799 | pubmed:articleTitle | Identification and characterization of AFG3L2, a novel paraplegin-related gene. | lld:pubmed |
| pubmed-article:10395799 | pubmed:affiliation | Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy. | lld:pubmed |
| pubmed-article:10395799 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10395799 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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