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Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
DC Field | Value | Language |
---|---|---|
dc.contributor.author | An, Seong Soo A. | - |
dc.contributor.author | Bagyinszky, Eva | - |
dc.contributor.author | Kim, Hye Ryoun | - |
dc.contributor.author | Seok, Ju-Won | - |
dc.contributor.author | Shin, Hae-Won | - |
dc.contributor.author | Bae, SeunOh | - |
dc.contributor.author | Kim, SangYun | - |
dc.contributor.author | Youn, Young Chul | - |
dc.date.accessioned | 2017-02-08T05:52:37Z | - |
dc.date.available | 2017-02-08T05:52:37Z | - |
dc.date.issued | 2016-05-20 | - |
dc.identifier.citation | BMC Neurology, 16(1):71 | ko_KR |
dc.identifier.uri | https://hdl.handle.net/10371/100553 | - |
dc.description | This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. | ko_KR |
dc.description.abstract | Abstract
Background Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation. Case report A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clinically diagnosed as familial Alzheimer's disease due to a PSEN1 mutation. One of two daughters also has the same mutation, G209A in the TM-IV of PS1 protein. Her mother had unspecified dementia that began at the age of 40s. PolyPhen2 and SIFT prediction suggested that G209A might be a damaging variant with high scores. 3D modeling revealed that G209A exchange could result significant changes in the PS1 protein. Conclusion We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BioMed Central | ko_KR |
dc.subject | Alzheimer's disease | ko_KR |
dc.subject | Presenilin 1 mutation | ko_KR |
dc.subject | Presenilin 1 protein structure | ko_KR |
dc.subject | Novel mutation | ko_KR |
dc.subject | Structural prediction | ko_KR |
dc.title | Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 안성수 | - |
dc.contributor.AlternativeAuthor | 김혜련 | - |
dc.contributor.AlternativeAuthor | 석주원 | - |
dc.contributor.AlternativeAuthor | 신해원 | - |
dc.contributor.AlternativeAuthor | 배순오 | - |
dc.contributor.AlternativeAuthor | 김상윤 | - |
dc.contributor.AlternativeAuthor | 윤영철 | - |
dc.identifier.doi | 10.1186/s12883-016-0591-6 | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | An et al. | - |
dc.date.updated | 2017-01-06T10:16:29Z | - |
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