|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease.
|
31493133 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among the several LRRK2 pathogenic mutations, the most prevalent G2019S mutation increases its kinase activity when compared with the wild-type (WT), suggesting that LRRK2 kinase substrates are potential culprits of PD pathogenesis.
|
31138985 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
G2019S Variation in LRRK2: An Ideal Model for the Study of Parkinson's Disease?
|
31551736 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In Asian populations, the Gly2019Ser mutation is rare or absent but two other LRRK2 variants, Gly2385Arg and Arg1628PPro, increase PD risk.
|
30133089 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we derived induced pluripotent stem cells (iPSCs) from an Ashkenazi Jewish patient with G2019S LRRK2 mutation to isolate self-renewable multipotent neural stem cells (NSCs) and to model this form of PD in vitro.
|
31330122 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The clinical characteristics of Parkinson's disease (PD) associated with both the LRRK2 p.G2019S mutation and a GBA variant (LRRK2-GBA-PD) have not yet been determined.
|
30573413 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To characterize its effect on astrocytes, we developed a protocol to produce midbrain-patterned astrocytes from human induced pluripotent stem cells (iPSCs) derived from PD LRRK2 G2019S patients and healthy controls.
|
31085228 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we generate isogenic 3D midbrain organoids with or without a Parkinson's disease-associated LRRK2 G2019S mutation to study the pathogenic mechanisms associated with LRRK2 mutation.
|
30799274 |
2019 |
|
rs34778348
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Studies on various global populations have determined that mutations such as G2019S, G2385R, and R1628P in LRRK2 increase the risk of developing PD while the N551K-R1398H haplotype is associated with conferring protection against developing PD.
|
31487119 |
2019 |
|
rs34778348
|
|
|
0.900 |
GeneticVariation |
BEFREE |
G2019S variant is rare in Asian populations, whereas two other Asian-specific LRRK2 variants, G2385R and R1628P, are more frequent with a twofold increased risk of PD.
|
31041581 |
2019 |
|
rs34778348
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In Asian populations, the Gly2019Ser mutation is rare or absent but two other LRRK2 variants, Gly2385Arg and Arg1628PPro, increase PD risk.
|
30133089 |
2019 |
|
rs34778348
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Effect of LRRK2 G2385R Variant on Subthalamic Deep Brain Stimulation Efficacy in Parkinson's Disease in a Han Chinese Population.
|
31824408 |
2019 |
|
rs356219
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Further subgroup analysis showed that PD+RBD patients with rs356219/G exhibited a 30% and 20% decreased risk of progression on the H-Y stage and MoCA score (<i>p</i> = 0.038; <i>p</i> = 0.045).
|
31244647 |
2019 |
|
rs356219
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the discovery series cohort, we found a 4-loci interaction involving STK11 rs8111699, FCHSD1 rs456998, GSK3B rs1732170, and SNCA rs356219, which was associated with an increased risk of PD (odds ratio = 2.59, P < .001).
|
31234232 |
2019 |
|
rs356219
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The results indicate that there is a significant association between rs356219 polymorphism and PD susceptibility for all genetic models (allelic: OR = 1.377, 95% CI: 1.275-1.487, p = 0.000; homozygous: OR = 1.958, 95% CI: 1.666-2.301, p = 0.000; heterozygous: OR = 1.261, 95% CI: 1.158-1.373, p = 0.000; dominant: OR = 1.431, 95% CI: 1.320-1.550, p = 0.000; recessive: OR = 1.632, 95% CI: 1.431-1.861, p = 0.000), which is consistent with the results of the subgroup analyses on Asians and Caucasians.
|
31325583 |
2019 |
|
rs356219
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The SNCA rs356219-G allele was found to increase the risk of PD in LRRK2 carriers (OR 1.50, 95%CI 1.08-2.01, P = 0.016), and the AAO of AG + GG genotypes was 4 years earlier than AA genotype (P = 0.006).
|
31041581 |
2019 |
|
rs11931074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, our meta-analysis further indicates that the SNCA rs11931074 polymorphism contributes to PD susceptibility.
|
30120622 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene.
|
29414418 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
SIGNIFICANCE OF THE STUDY: Leucine-rich repeat kinase 2 (LRRK2) is the most common genetic cause of Parkinson disease (PD), and the most prevalent pathogenic mutation, G2019S, increases its kinase activity.
|
30411383 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We then generated and tested HD CAV-2 vectors expressing leucine-rich repeat kinase 2 (LRRK2) and LRRK2 carrying a G2019S mutation (LRRK2G2019S), which is linked to sporadic and familial autosomal dominant forms of PD.
|
30046008 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study.
|
29665080 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Mito-Ca<sup>2+</sup> homeostasis is also altered in the LRRK2-G2019S model of PD and the PAR-1/MARK model of neurodegeneration, and genetic or pharmacological restoration of mito-Ca<sup>2+</sup> level is beneficial in these models.
|
30185553 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Thus, our aim was to explore possible early alterations of neurotransmission produced by the G2019S LRRK2 mutation in PD.
|
29908325 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To further investigate this link in vivo, genetic RNAi screens of the MAPK pathways were performed in a Drosophila model to identify genetic modifier(s) that can suppress G2019S-Lrrk2-induced PD-like phenotypes.
|
29268033 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These data suggest that enhanced AGE-RAGE interaction contributes to LRRK2 G2019S mutation-mediated progressive neuronal loss in PD.
|
29387348 |
2018 |