|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Modeling G2019S-LRRK2 Sporadic Parkinson's Disease in 3D Midbrain Organoids.
|
30799274 |
2019 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Portugal has been identified as one of the countries with a high prevalence of LRRK2-G2019S, considered to be the most frequent known cause of familial and sporadic Parkinson's disease (PD).
|
28251720 |
2017 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In summary, our footprint-free LRRK2-G2019S isogenic cell lines allow standardized, genetic background independent, in vitro PD modeling and provide new insights into the role of LRRK2-G2019S and S129P-αS in the pathogenesis of PD.
|
28826027 |
2017 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thereby, we could emphasize the implication of G2019S in PD without any distinctive demographic factors in the studied cohort.
|
28683740 |
2017 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
That the most prevalent mutation, G2019S, leads to increased kinase activity has led to a concerted effort to identify LRRK2 kinase inhibitors as a potential disease-modifying therapy for PD.
|
26407721 |
2015 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both.
|
25347348 |
2014 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
No G2019S mutations were found in both patients with sporadic PD and controls.
|
24863511 |
2014 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
This comprehensive study confirms that p.Gly2019Ser is the most important genetic cause of PD known so far in Portugal and supports the contention that p.Arg1441His is also a PD-causing mutation.
|
23726462 |
2013 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We decided to evaluate nuclear organization in the context of ageing-associated disorders by focusing on a leucine-rich repeat kinase 2 (LRRK2) dominant mutation (G2019S; glycine-to-serine substitution at amino acid 2019), which is associated with familial and sporadic Parkinson's disease as well as impairment of adult neurogenesis in mice.
|
23075850 |
2012 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggest that mutant (G2019S) LRRK2 activates MKK4-JNK-c-Jun pathway in the SN and causes the resulting degeneration of SNpc dopaminergic neurons in PD transgenic mice.
|
22539006 |
2012 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A common p.G2019S mutation (rs34637584:A>G) is responsible for up to 30-40% of PD cases in some ethnic populations.
|
21850687 |
2011 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S mutation in the LRRK2 gene is quite common in Egyptian patients with sporadic PD.
|
21699405 |
2011 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The LRRK2 G2019S mutation is the most frequent known cause of familial and sporadic Parkinson's disease.
|
19945904 |
2010 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results demonstrate biochemical abnormalities of alpha-synuclein, and increased oxidative stress damage and oxidative stress responses in the frontal cortex in PD linked with G2019S LRRK2 mutation not related with the presence of cortical LBs and in the absence of apparent cognitive deficits.
|
20232069 |
2010 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
|
18805725 |
2009 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
G2019S mutation frequency is rather low in overall patients (0.8%) and in the familial group (1.7%), suggesting that it may be an uncommon cause of PD in Southern Italy.
|
18621566 |
2009 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our data suggest that the LRRK2 G2019S mutation plays an important role in the causality of familial and sporadic Parkinson disease (PD) in Israel and that gender affects its frequency among patients.
|
17938369 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.
|
17353388 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.
|
17440812 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.
|
17880562 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S substitution in LRRK2 is the most common genetic determinant of PD identified so far, and maps to a specific region of the kinase domain called the activation segment.
|
17584768 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population.
|
17614198 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation.
|
17115391 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance.
|
17596714 |
2007 |
|
Sporadic Parkinson disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157).
|
17044089 |
2006 |