| pubmed-article:15329351 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15329351 | lifeskim:mentions | umls-concept:C0524851 | lld:lifeskim |
| pubmed-article:15329351 | lifeskim:mentions | umls-concept:C0282537 | lld:lifeskim |
| pubmed-article:15329351 | pubmed:issue | Pt 11 | lld:pubmed |
| pubmed-article:15329351 | pubmed:dateCreated | 2004-10-19 | lld:pubmed |
| pubmed-article:15329351 | pubmed:abstractText | Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the past decade. Genetic definition has allowed subclassification into translated polyglutamine diseases, which are due to CAG repeat expansions, and a more heterogeneous group in which the trinucleotide repeat remains untranslated. The polyglutamine disorders are due to a toxic gain of function of mutant expanded proteins. Neuronal intranuclear inclusions (NIIs) characteristically occur. Protein misfolding, interference with DNA transcription and RNA processing, activation of apoptosis and dysfunction of cytoplasmic elements have all been invoked in the toxic process. The end result is apoptotic cell death with many aspects of neuronal function being perturbed. Promising progress has been made into arresting and reversing neurodegeneration in both cellular and animal models. The molecular mechanisms underlying the untranslated group remain less clear. Impedance of gene transcription secondary to abnormal DNA structures formed by repeats, modification of chromatin gene packaging and dysfunction at the RNA level have all been suggested as possible pathological mechanisms. These diseases remain irreversible. It is hoped that clarification of the molecular pathogenic mechanisms will provide the tools for future therapeutic intervention. | lld:pubmed |
| pubmed-article:15329351 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15329351 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15329351 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:15329351 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15329351 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15329351 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15329351 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:15329351 | pubmed:issn | 1460-2156 | lld:pubmed |
| pubmed-article:15329351 | pubmed:author | pubmed-author:EverettC MCM | lld:pubmed |
| pubmed-article:15329351 | pubmed:author | pubmed-author:WinnR HRH | lld:pubmed |
| pubmed-article:15329351 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:15329351 | pubmed:volume | 127 | lld:pubmed |
| pubmed-article:15329351 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15329351 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15329351 | pubmed:pagination | 2385-405 | lld:pubmed |
| pubmed-article:15329351 | pubmed:dateRevised | 2005-11-16 | lld:pubmed |
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| pubmed-article:15329351 | pubmed:meshHeading | pubmed-meshheading:15329351... | lld:pubmed |
| pubmed-article:15329351 | pubmed:meshHeading | pubmed-meshheading:15329351... | lld:pubmed |
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| pubmed-article:15329351 | pubmed:meshHeading | pubmed-meshheading:15329351... | lld:pubmed |
| pubmed-article:15329351 | pubmed:meshHeading | pubmed-meshheading:15329351... | lld:pubmed |
| pubmed-article:15329351 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15329351 | pubmed:articleTitle | Trinucleotide repeats and neurodegenerative disease. | lld:pubmed |
| pubmed-article:15329351 | pubmed:affiliation | Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK. | lld:pubmed |
| pubmed-article:15329351 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15329351 | pubmed:publicationType | Review | lld:pubmed |
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