|
rs34637584
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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 |
|
rs34637584
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S mutation in LRRK2 is one of the most common known genetic causes of neurodegeneration and Parkinson disease (PD).
|
30048714 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
<b>Conclusions:</b> Clinical heterogeneity was observed among <i>LRRK2</i>-associated PD in different variants in total and in different ethnic groups, especially for G2019S and G2385R.
|
30283330 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S mutation was screened in 250 Tunisian patients with PD.
|
29989150 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The <i>LRRK2</i> N2081D CD risk allele is located in the same kinase domain as G2019S, a mutation that is the major genetic cause of familial and sporadic PD.
|
29321258 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In Vitro Modeling of Leucine-Rich Repeat Kinase 2 G2019S-Mediated Parkinson's Disease Pathology.
|
29402177 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
These findings indicated that the inhibitory effect of LRRK2 G2019S on α-synuclein degradation could underlie the pathogenesis of aberrant α-synuclein aggregation in PD with LRRK2 mutation.
|
30536063 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
When LRRK2 G2019S PD carriers (n = 37) were compared to non-carriers with PD, carriers had higher GCase, acid sphingomyelinase and alpha galactosidase A activity.
|
29369793 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Dopamine D2 receptor-mediated neuroprotection in a G2019S Lrrk2 genetic model of Parkinson's disease.
|
29434188 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here, the impact of the p.G2019S mutation of leucine-rich repeat kinase 2 (LRRK2), which is most frequently associated with familial and sporadic PD, on α-synuclein pathology was investigated.
|
30172844 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this descriptive study, we characterized the acetylated proteins and peptides in primary fibroblasts from idiopathic PD (IPD) and genetic PD harboring G2019S or R1441G <i>LRRK2</i> mutations.
|
29719501 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Prospective longitudinal follow-up of patients with PD with or without the LRRK2 G2019S mutation supports data from a cross-sectional study and demonstrates a slower decline in motor Unified Parkinson's Disease Rating Scale scores among those with LRRK2 G2019S-associated PD.
|
29309488 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The PD-linked G2019S mutation in LRRK2, which increases kinase activity, enhances propagation efficiency.
|
30150626 |
2018 |