| Molecular approaches to mechanisms of prion diseases. | |
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MedLine Citation:
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PMID: 15449458 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Prion diseases such as scrapie in sheep, bovine spongiform encephalopathy in cattle, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease and fatal familial insomnia in man are neurodegenerative disorders. In humans, the diseases can be sporadic, inherited, or acquired by infection. The underlying pathogenic event in prion diseases is a conformational modification of the cellular isoform prion protein (PrP(C)) to the pathogenic isoform (PrP(SC)) that accumulates in the central nervous system. However, in humans, in some inherited cases the pathological PrP is not PrP(Sc), but a transmembrane form of prion protein, (Ctm)PrP. Prion protein is encoded by the cellular gene, PRNP, which has been mapped to human chromosome 20p21. Familial prion diseases are thought to result from a change in structure of the prion protein produced by the mutated PRNP gene. Furthermore, polymorphic codon 129 of the PRNP gene encodes either methionine or valine and appears to influence the susceptibility of patients to iatrogenic and sporadic CJD as well as the neuropathological phenotype in these forms of CJD. Polymorphisms in the promoter region of PRNP gene or disturbances in prion protein metabolism, such as incorrect activity of cellular chaperones or proteasomes are considered as susceptibility factors in human prion diseases. |
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Authors:
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Jolanta Bratosiewicz-Wasik; Tomasz J Wasik; Paweł P Liberski |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences Volume: 42 Suppl A ISSN: 1641-4640 ISO Abbreviation: Folia Neuropathol Publication Date: 2004 |
Date Detail:
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Created Date: 2004-09-28 Completed Date: 2004-10-21 Revised Date: 2006-11-28 |
Medline Journal Info:
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Nlm Unique ID: 9437431 Medline TA: Folia Neuropathol Country: Poland |
Other Details:
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Languages: eng Pagination: 33-46 Citation Subset: IM |
Affiliation:
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Department of Virology, Medical University of Silesia in Katowice, Katowice, Poland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amyloid
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genetics Animals Apoptosis / physiology Humans Mutation Nerve Degeneration / metabolism Prion Diseases / genetics* Prions / chemistry*, genetics*, metabolism* Protein Precursors / genetics |
| Chemical | |
Reg. No./Substance:
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0/Amyloid; 0/PRNP protein, human; 0/Prions; 0/Protein Precursors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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