Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 서혜명 | - |
dc.date.accessioned | 2018-03-26T07:14:33Z | - |
dc.date.available | 2018-03-26T07:14:33Z | - |
dc.date.issued | 2016-04 | - |
dc.identifier.citation | BIOMED RESEARCH INTERNATIONAL, v. 2016, Article ID 7917128 | en_US |
dc.identifier.issn | 2314-6133 | - |
dc.identifier.issn | 2314-6141 | - |
dc.identifier.uri | https://www.hindawi.com/journals/bmri/2016/7917128/abs/ | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/52514 | - |
dc.description.abstract | The LRRK2 mutation is a major causal mutation in familial Parkinson's disease. Although LRRK2 contains functional GTPase and kinase domains and their activities are altered by pathogenic mutations, most studies focused on LRRK2 kinase activity because the most prevalent mutant, G2019S, enhances kinase activity. However, the G2019S mutation is extremely rare in the Asian population. Instead, the G2385R mutation was reported as a major risk factor in the Asian population. Similar to other LRRK2 studies, G2385R studies have also focused on kinase activity. Here, we investigated GTPase activities of G2385R with other LRRK2 mutants, such as G2019S, R1441C, and I2020T, as well as wild type (WT). Our results suggest that both I2020T and G2385R contain GTPase activities stronger than that of WT. A kinase assay using the commercial recombinant proteins showed that I2020T harbored stronger activity, whereas G2385R had weaker activity than that of WT, as reported previously. This is the first report of LRRK2 I2020T and G2385R GTPase activities and shows that most of the LRRK2 mutations that are pathogenic or a risk factor altered either kinase or GTPase activity, suggesting that their physiological consequences are caused by altered enzyme activities. | en_US |
dc.description.sponsorship | This study was supported by grants from the InAm Neuroscience Research Center (Sanbon Hospital, Wonkwang University, Republic of Korea) and from the Basic Science Research Program (2015R1C1A2A01051755 to Wongi Seol) and SRC (MSIP no. 2011-0030049 to Hyemyung Seo) through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology. | en_US |
dc.language.iso | en_US | en_US |
dc.publisher | HINDAWI PUBLISHING CORP | en_US |
dc.subject | DISEASE-ASSOCIATED MUTATIONS | en_US |
dc.subject | PARKINSONS-DISEASE | en_US |
dc.subject | KINASE-ACTIVITY | en_US |
dc.subject | RISK-FACTOR | en_US |
dc.subject | VARIANT | en_US |
dc.subject | DOMAIN | en_US |
dc.subject | GENE | en_US |
dc.subject | LOCALIZATION | en_US |
dc.subject | POPULATION | en_US |
dc.subject | GLY2385ARG | en_US |
dc.title | G2385R and I2020T Mutations Increase LRRK2 GTPase Activity | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1155/2016/7917128 | - |
dc.relation.page | 1-9 | - |
dc.relation.journal | BIOMED RESEARCH INTERNATIONAL | - |
dc.contributor.googleauthor | Ho, Dong Hwan | - |
dc.contributor.googleauthor | Jang, Jihoon | - |
dc.contributor.googleauthor | Joe, Eun-Hye | - |
dc.contributor.googleauthor | Son, Ilhong | - |
dc.contributor.googleauthor | Seo, Hyemyung | - |
dc.contributor.googleauthor | Seol, Wongi | - |
dc.relation.code | 2016008912 | - |
dc.sector.campus | E | - |
dc.sector.daehak | COLLEGE OF SCIENCE AND CONVERGENCE TECHNOLOGY[E] | - |
dc.sector.department | DEPARTMENT OF MOLECULAR AND LIFE SCIENCE | - |
dc.identifier.pid | hseo | - |
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