|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Collectively, our study further elucidates the pathological effects of the G2019S mutation in the mammalian brain and supports the development of kinase inhibitors as a potential therapeutic approach for treating LRRK2-associated PD.
|
25731749 |
2015 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent.
|
20197411 |
2010 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
We demonstrate by both binding and enzymatic assays that alterations in the kinase activity of the PD-associated mutants I2020T and G2019S are due in part to altered ATP affinity.
|
19397894 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The purpose of this study was to determine the frequency of G2019S</span> mutation and whether the differences in the allele and genotype distribution of six SNPs within LRRK2 gene are associated with PD in an American non-Hispanic white population.
|
18752982 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
This suggests that the G2019S</span> mutant protein may cause PD by generating pathological levels of phosphorylated Asyn.
|
19576176 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (ADPD), the most common of which is the p.G2019S substitution that has been found at varying frequencies worldwide.
|
19357115 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, in 20 patients with AdPD and in 159 patients with sPD we screened several common LRRK2 mutations (G2019S, R1441C/G/H, I2012T and I2020T).
|
18435766 |
2008 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Currently, the Gly2019Ser and Gly2385Arg variants represent the most relevant PD-causing mutation and risk allele, respectively, linking the etiology of the familial and the sporadic forms of this disease.
|
17440812 |
2007 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
The results of this pilot project therefore indicate significant alterations in key signalling proteins in leukocytes from patients with PD, and were most pronounced in G2019S-associated PD.
|
17385669 |
2007 |
|
Parkinson Disease, Familial, Type 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation.
|
16240353 |
2005 |