|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S substitution in the kinase domain of LRRK2 (LRRK2<sup>G2019S</sup>) is the most prevalent mutation associated with Parkinson's disease (PD).
|
31605779 |
2020 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We developed a new model of PD that combines a sub-toxic MPTP insult to the G2019S-LRRK2 mutation.
|
31813996 |
2020 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutations in the gene encoding leucine-rich repeat kinase 2 (<i>LRRK2</i>), such as the G2019S mutation, are the most common cause of familial Parkinson's disease (PD).
|
31373835 |
2020 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most prevalent PD associated mutation, LRRK2-G2019S</span> is linked to familial and sporadic cases.
|
31621607 |
2019 |
|
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 |
Generation of gene-corrected iPSC line, KIOMi002-A, from Parkinson's disease patient iPSC with LRRK2 G2019S mutation using BAC-based homologous recombination.
|
31731184 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study predicts the molecular pathogenicity mechanism of the G2019S on patients with PD and provides a potential platform for developing therapeutics for patients with PD that harbor this amino acid substitution.
|
30844370 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mice expressing Lrrk2 carrying the Parkinson's disease-linked p.G2019S mutation controlled infection better, with reduced bacterial growth and longer animal survival during sepsis.
|
31554740 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
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 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Reduced integrity of non-motor networks was detected among NMC of the G2019S mutation in the LRRK2 gene prior to identifiable changes in connectivity of the motor network, indicating significant non-motor cerebral changes among populations "at risk" for future development of PD.
|
30793410 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
CSF samples of 51 subjects were analyzed: 15 LRRK2 p.G2019S PD, 10 IPD, 16 LRRK2 p.G2019S nonmanifesting carriers (NMC) and 10 healthy controls.
|
31211166 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
These findings demonstrate an important role for LRRK2 protein in regulation of mitochondrial clearance by the lysosomes, which is hampered in PD with the G2019S mutation.
|
31261377 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In examining the effects of PD-associated mutations and risk factors on protein function, we found that conserved substitutions such as G2019S affect human and mouse LRRK2 proteins similarly, but variation around position 2385, which is not fully conserved between humans and mice, induces divergent in vitro behavior.
|
30291536 |
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 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 |
Neurite Collapse and Altered ER Ca<sup>2+</sup> Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation.
|
30595548 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We found that closely matched PD patient groups with the LRRK2-G2019S mutation (PD-LRRK2) or GBA1 variants (PD-GBA) expressed the same disease networks as sporadic disease (sPD), but PD-LRRK2 and PD-GBA patients exhibited abnormal increases in network connectivity that were not present in sPD.
|
31813991 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here, we defined the mechanism by which LRRK2-G2019S (LRRK2-GS), a pathogenic mutation in the PD-associated gene LRRK2, accelerates ER stress and cell death.
|
31046837 |
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 |
Increased cancer risk has been reported in Parkinson's disease (PD) patients carrying the leucine rich repeat kinase 2 (LRRK2) G2019S mutation (LRRK2-PD) in comparison with idiopathic PD (IPD).
|
31348549 |
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 |
G2019S Variation in LRRK2: An Ideal Model for the Study of Parkinson's Disease?
|
31551736 |
2019 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S LRRK2 mutation, the commonest mutation in PD worldwide, was found in 5.7% of patients with idiopathic PD and 17.6% of familial cases in 153 Uzbek patients.
|
31485304 |
2019 |