|
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 |
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 |
This report provides further evidence that the LRRK2 p.G2019S is not implicated in PD in black populations from Nigeria and support the notion that p.G2019S mutation originated after the early human dispersal from sub-Saharan Africa.
|
30507963 |
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 |
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 |
<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 |
Parkinson's Disease-Linked LRRK2-G2019S Mutation Alters Synaptic Plasticity and Promotes Resilience to Chronic Social Stress in Young Adulthood.
|
30249796 |
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 |
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 |
The PD-linked G2019S mutation in LRRK2, which increases kinase activity, enhances propagation efficiency.
|
30150626 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequency of LRRK2 G2019S mutation was 5.8% in familial and 0.5% in sporadic PD cases.
|
30146349 |
2018 |
|
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 |
Participants belonging to the following cohorts of the Parkinson Progression Markers Initiative (PPMI) study were included: de novo PD with dopamine transporter binding deficit (n = 423), idiopathic REM sleep behavior disorder (RBD, n = 39), hyposmia (n = 26) and non-PD mutation carrier (NMC; Leucine-rich repeat kinase 2 (LRRK2) G2019S (n = 88) and glucocerebrosidase (GBA) gene (n = 38) mutations)).
|
30125297 |
2018 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, examination of p62 by immunohistochemistry (IH) recapitulated a distinct signature for G2019S PD.
|
30055128 |
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 |
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 |
Fibroblasts from PD patients (with or without the G2019S LRRK2 mutation) and control subjects were used to assess the different phenotypes between idiopathic and genetic PD.
|
30032424 |
2019 |
|
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 |
We applied an event-related fMRI gambling task to a group of non-manifesting carriers (NMC) of the G2019S mutation in the LRRK2 gene, in order to assess the reward network in an "at risk" population for future development of PD.
|
29971685 |
2019 |
|
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 |
We report novel candidate modifier genes for LRRK2 G2019S that may be used to interrogate the link between LRRK2, neurite regulation and neuronal degeneration in PD.
|
29907646 |
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 |
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 |
The Mann-Whitney U Test was utilized to compare LRRK2 G2019S carriers with PD (LRRK2+) with non-carrier PD controls who were matched for age, gender, education, and PD duration.
|
29627023 |
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 |