Source:http://linkedlifedata.com/resource/pubmed/id/10514828
| Subject | Predicate | Object | Context |
|---|---|---|---|
| pubmed-article:10514828 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10514828 | lifeskim:mentions | umls-concept:C0751778 | lld:lifeskim |
| pubmed-article:10514828 | lifeskim:mentions | umls-concept:C0086345 | lld:lifeskim |
| pubmed-article:10514828 | lifeskim:mentions | umls-concept:C0178499 | lld:lifeskim |
| pubmed-article:10514828 | lifeskim:mentions | umls-concept:C1626935 | lld:lifeskim |
| pubmed-article:10514828 | pubmed:dateCreated | 1999-11-3 | lld:pubmed |
| pubmed-article:10514828 | pubmed:abstractText | Among the epilepsies, the progressive myoclonus epilepsies (PMEs) form a heterogeneous group of rare diseases characterized by myoclonus, epilepsy, and progressive neurologic deterioration, particularly dementia and ataxia. The success of the Human Genome Project and the fact that most PMEs are inherited through a mendelian or mitochondrial mode have resulted in important advances in the definition of the molecular basis of PME. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, Lafora disease, type I sialidosis, and myoclonus epilepsy with ragged-red fibers) have been either identified or mapped to specific chromosome sites. Unverricht-Lundborg disease has been shown to be caused by mutations in the gene that codes for cystatin B, an inhibitor of cysteine protease. The most common mutation in Unverricht-Lundborg disease is an expansion of a dodecamer repeat located in a noncoding region upstream of the transcription start site of the cystatin B gene, making it the first human disease associated with instability of a dodecamer repeat. Juvenile neuronal ceroid lipofuscinosis is caused by mutations in the CLN3 gene, a gene of unknown function that encodes a 438-amino-acid protein of possible mitochondrial location. Other forms of neuronal ceroid lipofuscinosis that occur as PME and Lafora disease have been mapped by means of linkage analysis, but the corresponding gene defects remain unknown. Sialidosis has been shown to be caused by mutations in the sialidase gene, and myoclonus epilepsy with ragged-red fibers is well known to be caused by mutations in the mitochondrial gene that codes for tRNA(Lys). How the different PME gene defects described produce the various PME phenotypes, including epileptic seizures, remains unknown. The development of animal models that bear these mutations is needed to increase our knowledge of the basic mechanisms involved in the PMEs. This knowledge should lead to the development of new and effective forms of therapy, which are especially lacking for the PMEs. | lld:pubmed |
| pubmed-article:10514828 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10514828 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10514828 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10514828 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10514828 | pubmed:issn | 0091-3952 | lld:pubmed |
| pubmed-article:10514828 | pubmed:author | pubmed-author:GardinerR MRM | lld:pubmed |
| pubmed-article:10514828 | pubmed:author | pubmed-author:MyersR MRM | lld:pubmed |
| pubmed-article:10514828 | pubmed:author | pubmed-author:LehesjokiA... | lld:pubmed |
| pubmed-article:10514828 | pubmed:author | pubmed-author:SerratosaJ... | lld:pubmed |
| pubmed-article:10514828 | pubmed:author | pubmed-author:PennacchioL... | lld:pubmed |
| pubmed-article:10514828 | pubmed:issnType | lld:pubmed | |
| pubmed-article:10514828 | pubmed:volume | 79 | lld:pubmed |
| pubmed-article:10514828 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10514828 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10514828 | pubmed:pagination | 383-98 | lld:pubmed |
| pubmed-article:10514828 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:10514828 | pubmed:meshHeading | pubmed-meshheading:10514828... | lld:pubmed |
| pubmed-article:10514828 | pubmed:meshHeading | pubmed-meshheading:10514828... | lld:pubmed |
| pubmed-article:10514828 | pubmed:meshHeading | pubmed-meshheading:10514828... | lld:pubmed |
| pubmed-article:10514828 | pubmed:meshHeading | pubmed-meshheading:10514828... | lld:pubmed |
| pubmed-article:10514828 | pubmed:meshHeading | pubmed-meshheading:10514828... | lld:pubmed |
| pubmed-article:10514828 | pubmed:meshHeading | pubmed-meshheading:10514828... | lld:pubmed |
| pubmed-article:10514828 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10514828 | pubmed:articleTitle | The molecular genetic bases of the progressive myoclonus epilepsies. | lld:pubmed |
| pubmed-article:10514828 | pubmed:affiliation | Neurology Service, Fundación Jiménez Díaz, Madrid, Spain. | lld:pubmed |
| pubmed-article:10514828 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10514828 | pubmed:publicationType | Review | lld:pubmed |