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, SangYun | - |
dc.date.available | 2020-02-28T17:43:27Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2014-05-15 | - |
dc.identifier.issn | 1471-2377 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/12631 | - |
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 | en | - |
dc.publisher | BIOMED CENTRAL LTD | - |
dc.relation.isPartOf | BMC NEUROLOGY | - |
dc.subject | PRESENILIN 2 | - |
dc.subject | GENE MUTATION | - |
dc.subject | FAMILIES | - |
dc.title | Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000336649200001 | - |
dc.identifier.doi | 10.1186/1471-2377-14-105 | - |
dc.identifier.bibliographicCitation | BMC NEUROLOGY, v.14 | - |
dc.identifier.scopusid | 2-s2.0-84901632348 | - |
dc.citation.title | BMC NEUROLOGY | - |
dc.citation.volume | 14 | - |
dc.contributor.affiliatedAuthor | Bagyinszky, Eva | - |
dc.contributor.affiliatedAuthor | An, Seong Soo | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Alzheimer&apos | - |
dc.subject.keywordAuthor | 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 | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.