Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Youn, Young Chul | - |
dc.contributor.author | Bagyinszky, Eva | - |
dc.contributor.author | Kim, HyeRyoun | - |
dc.contributor.author | Choi, Byung-Ok | - |
dc.contributor.author | An, Seong Soo | - |
dc.contributor.author | Kim, Sang Yun | - |
dc.date.available | 2019-03-08T21:57:47Z | - |
dc.date.issued | 2014-05 | - |
dc.identifier.issn | 1471-2377 | - |
dc.identifier.issn | 1471-2377 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/12230 | - |
dc.description.abstract | Background: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. Case presentation: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region. Conclusion: It could be a novel mutation verified with structural prediction in a patient with Alzheimer's disease. | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | BIOMED CENTRAL LTD | - |
dc.title | Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction | - |
dc.type | Article | - |
dc.identifier.doi | 10.1186/1471-2377-14-105 | - |
dc.identifier.bibliographicCitation | BMC NEUROLOGY, v.14, no.1 | - |
dc.description.isOpenAccess | Y | - |
dc.identifier.wosid | 000336649200001 | - |
dc.identifier.scopusid | 2-s2.0-84901632348 | - |
dc.citation.number | 1 | - |
dc.citation.title | BMC NEUROLOGY | - |
dc.citation.volume | 14 | - |
dc.type.docType | Article | - |
dc.publisher.location | 영국 | - |
dc.subject.keywordAuthor | Alzheimer's disease | - |
dc.subject.keywordAuthor | Presenilin 2 mutation | - |
dc.subject.keywordAuthor | Presenilin 2 protein structure | - |
dc.subject.keywordAuthor | Novel mutation | - |
dc.subject.keywordAuthor | Structural prediction | - |
dc.subject.keywordPlus | PRESENILIN 2 | - |
dc.subject.keywordPlus | GENE MUTATION | - |
dc.subject.keywordPlus | FAMILIES | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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