| pubmed-article:10861296 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C2347958 | lld:lifeskim |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C1320928 | lld:lifeskim |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C0025252 | lld:lifeskim |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C0014239 | lld:lifeskim |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C0027877 | lld:lifeskim |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C1413500 | lld:lifeskim |
| pubmed-article:10861296 | lifeskim:mentions | umls-concept:C1549439 | lld:lifeskim |
| pubmed-article:10861296 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:10861296 | pubmed:dateCreated | 2000-9-12 | lld:pubmed |
| pubmed-article:10861296 | pubmed:abstractText | Progressive epilepsy with mental retardation (EPMR) is a new member of the neuronal ceroid lipofuscinoses (NCLs). The CLN8 gene underlying EPMR was recently identified. It encodes a novel 286 amino acid transmembrane protein that contains an endoplasmic reticulum (ER)-retrieval signal (KKRP) in its C-terminus. A homozygous mutation in the orthologous mouse gene (Cln8) underlies the phenotype of a naturally occurring NCL model, the motor neuron degeneration mouse (mnd). To characterize the product of the CLN8 gene and to determine its intracellular localization, we expressed CLN8 cDNA in BHK, HeLa and CHO cell lines. In western blotting and pulse-chase analyses an approximately 33 kDa protein that does not undergo proteolytic processing steps was detected. Using CLN8 and cell organelle specific antibodies with confocal immunofluorescence microscopy the CLN8 protein was shown to localize in the ER. Partial localization to the ER-Golgi intermediate compartment (ERGIC) was also observed. The ER-ERGIC localization was not altered in the CLN8 protein representing the EPMR mutation. However, mnd mutant protein was only found in the ER. Mutations in the ER retrieval signal KKRP resulted in localization of CLN8 to the Golgi apparatus. Taken together, these data strongly suggest that CLN8 is an ER resident protein that recycles between ER and ERGIC. | lld:pubmed |
| pubmed-article:10861296 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10861296 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10861296 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10861296 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10861296 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10861296 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10861296 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:10861296 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:10861296 | pubmed:author | pubmed-author:RantaSS | lld:pubmed |
| pubmed-article:10861296 | pubmed:author | pubmed-author:LehesjokiA... | lld:pubmed |
| pubmed-article:10861296 | pubmed:author | pubmed-author:JalankoAA | lld:pubmed |
| pubmed-article:10861296 | pubmed:author | pubmed-author:LonkaLL | lld:pubmed |
| pubmed-article:10861296 | pubmed:author | pubmed-author:KyttäläAA | lld:pubmed |
| pubmed-article:10861296 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10861296 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:10861296 | pubmed:volume | 9 | lld:pubmed |
| pubmed-article:10861296 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10861296 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10861296 | pubmed:pagination | 1691-7 | lld:pubmed |
| pubmed-article:10861296 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:10861296 | pubmed:meshHeading | pubmed-meshheading:10861296... | lld:pubmed |
| pubmed-article:10861296 | pubmed:meshHeading | pubmed-meshheading:10861296... | lld:pubmed |
| pubmed-article:10861296 | pubmed:meshHeading | pubmed-meshheading:10861296... | lld:pubmed |
| pubmed-article:10861296 | pubmed:meshHeading | pubmed-meshheading:10861296... | lld:pubmed |
| pubmed-article:10861296 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10861296 | pubmed:articleTitle | The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. | lld:pubmed |
| pubmed-article:10861296 | pubmed:affiliation | Department of Molecular Genetics, Folkhälsan Institute of Genetics, Helsinki, Finland. | lld:pubmed |
| pubmed-article:10861296 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10861296 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2055 | entrezgene:pubmed | pubmed-article:10861296 | lld:entrezgene |
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