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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 163 - 169 (7page)
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Mutations in PARK2 are considered a common cause of Parkinson’s disease (PD). To assess the frequency of PARK2 mutations in the Korean population, we screened the PARK2 gene in 83 Korean PD patients: two young onset (YO, B 49), 32 middle onset (MO, 50–69) and 49 late onset (LO, C 70). Detection of the point mutations was performed by direct sequencing of the PARK2 exons, and exonic rearrangements were analyzed using multiplex ligation-dependent probe amplification. Five known PARK2 variants were identified in 53 (63.9 %) of the Korean PD patients: two missense mutations (Y267H and M458L) and three polymorphisms (S167N, L272I and V380L). We also found an increased frequency of PARK2 variants in PD patients and a lowered PD age at onset (AAO) in those having two variants, suggesting that the genetic variation in PARK2 gene might be a genetic risk factor of PD in Korean population.
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참고문헌 (37)
참고문헌 신청
Wojciech Ambroziak / 2015 / Genomic instability in the PARK2 locus is associated with Parkinson’s disease / Journal of Applied Genetics 56(4):451~461
Caulfield TR / 2014 / Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin / PLoS Comput Biol 10:e1003935
Chew KC / 2011 / Parkin mediates apparent E2-independent monoubiquitination in vitro and contains an intrinsic activity that catalyzes polyubiquitination / PLoS ONE 6:e19720
Choi JM / 2008 / Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease / Neurogenetics 9:263~269
주민경 / 2014 / Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson’s Disease / Journal of Clinical Neurology 10(3):244~248
Caulfield TR / 2014 / Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin / PLoS Comput Biol 10:e1003935
Chew KC / 2011 / Parkin mediates apparent E2-independent monoubiquitination in vitro and contains an intrinsic activity that catalyzes polyubiquitination / PLoS ONE 6:e19720
Choi JM / 2008 / Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease / Neurogenetics 9:263~269
주민경 / 2014 / Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson’s Disease / Journal of Clinical Neurology 10(3):244~248
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