PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients.
|
31621607 |
2019 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings indicate that the LRRK2 kinase activity is critical for neurodegeneration caused by R1441C and G2019S mutations, suggesting that kinase inhibition of LRRK2 may represent a promising therapeutic strategy for PD.
|
23065705 |
2013 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
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 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
To further characterize mitochondrial dysfunction in LRRK2(G2019S) mutant Parkinson disease (PD) patient tissue (M-LRRK2(G2019S)), determine whether ursodeoxycholic acid (UDCA) also exerts a beneficial effect on mitochondrial dysfunction in nonmanifesting LRRK2(G2019S) mutation carriers (NM-LRRK2(G2019S)), and assess UDCA for its beneficial effect on neuronal dysfunction in vivo.
|
26253449 |
2015 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
We aimed to evaluate, for the first time, the criteria in first-degree relatives of Ashkenazi Jewish G2019S-LRRK2 PD patients, who are considered a population at risk for developing PD, and assess the sensitivity and specificity of the criteria in identifying phenoconverters.
|
29603409 |
2018 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
|
16272257 |
2005 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
In a novel cohort of Norwegian subjects with and without the G2019S-LRRK2 mutation, with and without PD, we quantified levels of pS1292-LRRK2, total LRRK2, and other exosome proteins in urine from 132 subjects and in CSF from 82 subjects.
|
29166931 |
2017 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
To gain insight into systemic molecular events associated with an age-related neurodegenerative disorder, we compared gene expression patterns in peripheral blood mononuclear cells (PBMCs) sampled from elderly, healthy controls and from Parkinson's disease (PD) patients carrying the most frequently found mutation of the LRRK2 gene (G2019S).
|
20096956 |
2011 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genetic testing for G2019S in sporadic late-onset Parkinson's disease can be considered in some situations and may be useful in populations with high carrier status.
|
19804413 |
2009 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
Wild-type LRRK2 (LRRK2(wt)) expression induces expression of vascular cell adhesion molecule 1 (VCAM-1) which is further exacerbated in cells expressing PD-associated LRRK2 G2019S mutants (LRRK2(G2019S)).
|
24788225 |
2015 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
The presence of hyposmia and of neuropsychiatric, dysautonomic and sleep disturbances was assessed in 33 LRRK2-G2019S-PD patients by standardized questionnaires and validated scales.
|
25330404 |
2014 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease.
|
17050822 |
2006 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
These unexpected findings may indicate early adaptive coping mechanisms imparted by the G2019S mutation.<b>SIGNIFICANCE STATEMENT</b> The G2019S mutation in <i>LRRK2</i> causes late-onset Parkinson's disease (PD).
|
30249796 |
2018 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied 25 PD patients: 12 with the LRRK2 mutation (6 G2019S and 6 R1441G), and 13 with iPD.
|
23764467 |
2013 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.
|
16298482 |
2006 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
Olfactory dysfunction has been reported in Parkinson's disease (PD) patients carrying the LRRK2 G2019S variant in Caucasians but rarely in those with the LRRK2 G2385R variant.
|
27699718 |
2016 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S mutation in the LRRK2 gene generates a milder PD phenotype compared with GBA-PD; however, genetic based survival studies are lacking.
|
30288804 |
2018 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population.
|
17064949 |
2007 |
PARKINSON DISEASE, LATE-ONSET
|
|
0.100 |
GeneticVariation
|
BEFREE |
Comparison of the profiles of purified iPSC-derived DaNs derived from Parkinson's disease (PD) patients carrying LRRK2 G2019S variants to controls identified significant functional convergence amongst differentially-expressed (DE) genes.
|
28096185 |
2017 |