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 |
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 |
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 |
Furthermore, examination of p62 by immunohistochemistry (IH) recapitulated a distinct signature for G2019S PD.
|
30055128 |
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 |
Next, we assayed the amounts of reduced pteridine compounds in the CSF of 36 pre-symptomatic LRRK2-mutation (N1437H or G2019S) carriers (LRRK2-carrier), 13 patients with PD symptoms (LRRK2-PD), 46 patients with sporadic PD (sPD), and 26 non-PD individuals.
|
28864907 |
2018 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common Parkinson's disease (PD) m</span>utation is the gain-of-function LRRK2 G2019S variant, which has also been linked to inflammatory disease states.
|
28893563 |
2018 |
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 |
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 |
Suppression of neuroinflammation by matrix metalloproteinase-8 inhibitor in aged normal and LRRK2 G2019S Parkinson's disease model mice challenged with lipopolysaccharide.
|
28958936 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The PD LRRK2-G2019S associated profile was positively matched with expression changes induced by the Parkinsonian neurotoxin rotenone and opposed by those induced by clioquinol, a compound with demonstrated therapeutic efficacy in multiple PD models.
|
28096185 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Such suggestions are relevant mainly for people at putatively high risk of developing AD (i.e., older adults with mild cognitive impairment subtypes) or PD (i.e., older adults with either Mild Parkinsonian signs or LRRK2 G2019S mutation).
|
28588547 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We propose G2019S knock-in mice as a presymptomatic Parkinson's disease model, useful to investigate the pathogenic interaction among genetics, aging, and internal or environmental factors leading to the disease.
|
28292328 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Individuals possessing gain of function mutations in the kinase domain such as the most prevalent G2019S mutation have been associated with an increased risk for the development of Parkinson's disease (PD).
|
28245354 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Similarly, AF-6 overexpression also ameliorates the pathological phenotypes in flies expressing the Leucine Rich Repeat Kinase 2 (LRRK2) G2019S mutant, a mutation that is associated with dominantly-inherited PD cases in humans.
|
28848400 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease.
|
29159192 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutations in leucine-rich repeat kinase 2 (LRRK2), such as G2019S, are associated with an increased risk of developing Parkinson's disease.
|
29023112 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this work we aimed to study early changes in Dopamine uptake in non-manifesting PD carriers (NMC) of the G2019S LRRK2 mutation using quantitative DaT-SPECT analysis and to examine the potential for early prediction of PD.
|
28406934 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We examine performance of the proposed methods by simulations and apply them to estimate the age-specific cumulative risk of Parkinson's disease (PD) in carriers of the LRRK2 G2019S mutation using first-degree relatives who are at genetic risk for PD.
|
28656686 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is the most common genetic cause of Parkinson's disease (PD).
|
28235153 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
These data indicate that mitochondrial deficits in the context of LRRK2 G2019S are not a global phenomenon and point to distinct sirtuin and bioenergetic deficiencies intrinsic to dopaminergic neurons, which may underlie dopaminergic neuron loss in PD.
|
29129681 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common cause of the monogenic form of Parkinson's disease known so far is the G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene.
|
28723952 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease.
|
28973664 |
2017 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The concentration of mitochondrial DNA was measured using a digital droplet polymerase chain reaction technique in a total of 98 CSF samples from a cohort of subjects including: 20 LRRK2(G2019S) mutation carriers with Parkinson's disease, 26 asymptomatic LRRK2(G2019S) mutation carriers, 31 patients with idiopathic Parkinson's disease and 21 first-degree relatives of LRRK2 Parkinson's disease patients without the mutation.
|
27260835 |
2016 |
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S mutation is associated with increased asymmetry and variability among nonmanifesting participants and patients with PD.
|
27430880 |
2016 |