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rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An early axonopathy in a hLRRK2(R1441G) transgenic model of Parkinson disease.
|
26192625 |
2015 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R1441G mutation was absent in our PD sporadic cases, but the G2019S mutation was present in 2 of them (1.9%).
|
17253937 |
2006 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with Parkinson's disease were screened for R1441G and G2019S LRRK2 gene mutations and classified as LRRK2 mutation carriers or noncarriers.
|
21611983 |
2011 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.
|
19020907 |
2009 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease.
|
17540608 |
2007 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Carriers of the R1441G mutation were clinically analogous to the rest of similarly operated patients with idiopathic Parkinson's disease.
|
18496192 |
2008 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, these data clearly demonstrate that LRRK2 kinase activity is modulated by PKA-mediated binding of 14-3-3 to S1444 and suggest that 14-3-3 interaction with LRRK2 is hampered in R1441C/G/H-mediated PD pathogenesis.
|
24351927 |
2014 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in a Drosophila model of Parkinson's disease.
|
27794539 |
2016 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, the PD-related LRRK2 R1441C missense mutation in the GTPase domain interfered with the interaction of LRRK2 with Sec16A and also affected ER-Golgi transport, while LRRK2 kinase activity was not required for these functions.
|
25201882 |
2014 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease.
|
18484993 |
2008 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
|
21538529 |
2011 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations.
|
27613114 |
2016 |
|
rs33939927
|
|
|
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 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent study has shown that LRRK2 G-domain cycles between monomeric and dimeric conformations upon binding to GTP or guanosine diphosphate, and that the Parkinson's disease (PD)-associated R1441C/G/H mutations impair the G-domain monomer-dimer dynamics and trap the G-domain in a constitutive monomeric conformation.
|
30592623 |
2019 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Additionally, in samples from patients with the R1441G mutation and with idiopathic PD, we found a prominent cytoplasmic re-distribution of human antigen R, a protein that, among others, stabilizes COX-2 RNA.
|
24360742 |
2014 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain.
|
19308469 |
2009 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, examination of clinical records revealed the p.R1441C carrier to have PD with dementia.
|
27521182 |
2016 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A comprehensive interview conducted by sleep specialists, validated sleep scales and questionnaires, and video-polysomnography followed by multiple sleep latency test (MSLT) assessed sleep in 18 LRRK2-PD (17 carrying G2019S and one R1441G mutations), 17 NMC (11 G2019S, three R1441G, three R1441C), 14 non-manifesting non-carriers (NMNC) and 19 unrelated IPD.
|
26177462 |
2015 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R1441C and G2019S mutations are not rare causes of PD in Campania, especially in the province of Naples and among the familial cases, where the overall mutation prevalence is 6.8%.
|
24496098 |
2014 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 R1441G in Spanish patients with Parkinson's disease.
|
15925109 |
2005 |
|
rs33939927
|
|
|
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 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
All six p.R1441C carriers were familial PD patients explaining 10.7% of familial PD in the Belgian patient group.
|
18197194 |
2008 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G.
|
17097110 |
2006 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We examined cognition and psychiatric symptoms in 27 patients with LRRK2-PD (12 G2019S and 15 R1441G) and 27 iPD patients.
|
25840672 |
2015 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2.
|
19735093 |
2009 |