{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T04:15:03Z","timestamp":1759032903636},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,1,30]],"date-time":"2006-01-30T00:00:00Z","timestamp":1138579200000},"content-version":"vor","delay-in-days":2130,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2000,4]]},"abstract":"<jats:p><jats:bold>A<jats:sc>bstract<\/jats:sc>: <\/jats:bold> Familial British dementia (FBD) is an early\u2010onset autosomal dominant disorder characterized by progressive cognitive impairment, spasticity, and cerebellar ataxia. Hippocampal neurofibrillar degeneration and widespread parenchymal and vascular amyloid deposits are the main neuropathological lesions. Amyloid fibrils are composed of a novel 34 amino acid subunit (ABri) with no sequence identity to any known amyloid molecule. The peptide derives from a larger precursor protein codified by a single gene <jats:italic>BRI<\/jats:italic> on chromosome 13. Affected family members have a single base substitution at the stop codon of the <jats:italic>BRI<\/jats:italic> gene that generates a longer open\u2010reading frame resulting in a larger precursor protein. The release of the 34 C\u2010terminal amino acids from the mutated precursor originates the ABri amyloid subunit. Our discovery of a new amyloid associated with the development of dementia supports the concept that amyloid peptides may be of primary importance in the initiation of neurodegeneration.<\/jats:p>","DOI":"10.1111\/j.1749-6632.2000.tb06359.x","type":"journal-article","created":{"date-parts":[[2006,1,30]],"date-time":"2006-01-30T14:39:26Z","timestamp":1138631966000},"page":"129-137","source":"Crossref","is-referenced-by-count":16,"title":["A Newly Formed Amyloidogenic Fragment due to a Stop Codon Mutation Causes Familial British Dementia"],"prefix":"10.1111","volume":"903","author":[{"given":"J.","family":"GHISO","sequence":"first","affiliation":[]},{"given":"R.","family":"VIDAL","sequence":"additional","affiliation":[]},{"given":"A.","family":"ROSTAGNO","sequence":"additional","affiliation":[]},{"given":"S.","family":"MEAD","sequence":"additional","affiliation":[]},{"given":"T.","family":"R\u00c9V\u00c9SZ","sequence":"additional","affiliation":[]},{"given":"G.","family":"PLANT","sequence":"additional","affiliation":[]},{"given":"B.","family":"FRANGIONE","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2006,1,30]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/95.2.387"},{"key":"e_1_2_5_3_2","first-page":"445","article-title":"Intracerebral haematomas","volume":"67","author":"Luyendijk W.","year":"1964","journal-title":"A clinical study of 40 surgical cases. Psychiat. Neurol. Neurochir."},{"key":"e_1_2_5_4_2","first-page":"361","article-title":"Meningocerebrovascular amyloidosis associated with a novel transthyretin mis\u2010sense mutation at codon 18 (TTRD18G)","volume":"148","author":"Vidal R.","year":"1996","journal-title":"Am. J. Pathol."},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410305"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2974"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.169.5.1771"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.16.5991"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(90)91274-V"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2111584"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/113.3.721"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050970"},{"key":"e_1_2_5_13_2","doi-asserted-by":"crossref","unstructured":"Worster\u2010Drought C. T. Hill & W. McMenemey. 1933. Familial presenile dementia with spastic paralysis. J. Neurol. Psychopathol. 27\u201334.","DOI":"10.1136\/jnnp.s1-14.53.27"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.5.396"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.3.271"},{"key":"e_1_2_5_16_2","first-page":"163","article-title":"Familial cerebral amyloid angiopathy (British type) with non\u2010neuritic plaque formation is not restricted to a single family","volume":"22","author":"Doshi B.","year":"1996","journal-title":"J. Neuropathol. Appl. Neurobiol."},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)00274-R"},{"key":"e_1_2_5_18_2","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/21637","article-title":"A stop codon in the BRI gene associated with familial British dementia","volume":"399","author":"Vidal R.","year":"1999","journal-title":"Nature"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(82)90515-0"},{"key":"e_1_2_5_20_2","unstructured":"Sonnhammer E. G. Von Heijne & A. Krogh. 1998. A hidden Markov model for predicting transmembrane helices in protein sequences. I.S.M.B. 175\u2013182."},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02778007"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.30.20745"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)41896-0"},{"key":"e_1_2_5_24_2","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/0304-3940(96)12970-0","article-title":"Amino\u2010 and carboxyl\u2010terminal heterogeneity of beta\u2010amyloid peptides deposited in human brain","volume":"13","author":"Saido T.","year":"1996","journal-title":"Neurosci. Lett."},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199801000-00009"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420403"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(90)91304-Y"},{"key":"e_1_2_5_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308813"},{"key":"e_1_2_5_29_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.22.13103"},{"key":"e_1_2_5_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00354-0"}],"container-title":["Annals of the New York Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1749-6632.2000.tb06359.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1749-6632.2000.tb06359.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T06:52:28Z","timestamp":1695624748000},"score":1,"resource":{"primary":{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/10.1111\/j.1749-6632.2000.tb06359.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,4]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,4]]}},"alternative-id":["10.1111\/j.1749-6632.2000.tb06359.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1749-6632.2000.tb06359.x","archive":["Portico"],"relation":{},"ISSN":["0077-8923","1749-6632"],"issn-type":[{"value":"0077-8923","type":"print"},{"value":"1749-6632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,4]]}}}