| pubmed-article:10781099 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C0497327 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C0002716 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C0030956 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C0332597 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C1416512 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C1883633 | lld:lifeskim |
| pubmed-article:10781099 | lifeskim:mentions | umls-concept:C0598429 | lld:lifeskim |
| pubmed-article:10781099 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:10781099 | pubmed:dateCreated | 2000-5-24 | lld:pubmed |
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| pubmed-article:10781099 | pubmed:abstractText | Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer's disease. N-terminal sequence analysis of isolated leptomeningeal amyloid fibrils revealed homology to ABri, the peptide originated by a point mutation at the stop codon of gene BRI in familial British dementia. Molecular genetic analysis of the BRI gene in the Danish kindred showed a different defect, namely the presence of a 10-nt duplication (795-796insTTTAATTTGT) between codons 265 and 266, one codon before the normal stop codon 267. The decamer duplication mutation produces a frame-shift in the BRI sequence generating a larger-than-normal precursor protein, of which the amyloid subunit (designated ADan) comprises the last 34 C-terminal amino acids. This de novo-created amyloidogenic peptide, associated with a genetic defect in the Danish kindred, stresses the importance of amyloid formation as a causative factor in neurodegeneration and dementia. | lld:pubmed |
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| pubmed-article:10781099 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:10781099 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:10781099 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10781099 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:10781099 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:PlankNN | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:Bojsen-Møller... | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:FrangioneBB | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:KimEE | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:VidalRR | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:SyG SGS | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:ReveszTT | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:GhisoJJ | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:RostagnoAA | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:BraendgaardHH | lld:pubmed |
| pubmed-article:10781099 | pubmed:author | pubmed-author:HoltonJ LJL | lld:pubmed |
| pubmed-article:10781099 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10781099 | pubmed:day | 25 | lld:pubmed |
| pubmed-article:10781099 | pubmed:volume | 97 | lld:pubmed |
| pubmed-article:10781099 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10781099 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10781099 | pubmed:pagination | 4920-5 | lld:pubmed |
| pubmed-article:10781099 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:10781099 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10781099 | pubmed:articleTitle | A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. | lld:pubmed |
| pubmed-article:10781099 | pubmed:affiliation | Department of Pathology, New York University School of Medicine, New York 10016, USA. vidalr01@popmail.med.nyu.edu | lld:pubmed |
| pubmed-article:10781099 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10781099 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:10781099 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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