|
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 |
In addition, VPA induced the improvement of PD-like motor and non-motor behavior in LRRK2 R1441G mice.
|
31495079 |
2019 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 mutations that cause PD including R1441C, Y1699C, and G2019S all increase LRRK2 phosphorylation of Rab7L1 four-fold over wild-type LRRK2 in cells, resulting in the phosphorylation of nearly one-third the available Rab7L1 protein in cells.
|
29177506 |
2018 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, judged by the phenotypes presented, the LRRK2-R1441C knock-in line is a valid preclinical model for the prodromal phase of PD.
|
28576705 |
2017 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The heterozygous R1441C mutation of leucine-rich repeat kinase 2 gene in a Chinese patient with Parkinson disease: A five-year follow-up and literatures review.
|
28131193 |
2017 |
|
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 |
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 |
However, examination of clinical records revealed the p.R1441C carrier to have PD with dementia.
|
27521182 |
2016 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most prevalent Parkinson's disease LRRK2 mutations are located in the kinase (G2019S) and GTPase (R1441C) encoding domains of LRRK2.
|
26744332 |
2016 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
|
27111571 |
2016 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease.
|
26686514 |
2016 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An early axonopathy in a hLRRK2(R1441G) transgenic model of Parkinson disease.
|
26192625 |
2015 |
|
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 |
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 |
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 |
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 |
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 |
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 |
In conclusion, significant differences were not detected between R1441G-PD and i-PD in cognitive, depression and anxiety scales, or PD-MCI and PD-Dementia prevalence, and the cognitive profile was identical in the two groups.
|
25127457 |
2014 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cancer prevalence was not significantly higher in PD-G2019S carriers (20%) than in PD-R1441G carriers (14.3%), iPD (13.8%), or controls (12.5%).
|
24357540 |
2014 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This is the first report of familial PD because of the LRRK2 p.R1441G mutation in Asia.
|
24973808 |
2014 |
|
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 |
The parkinson's disease-associated LRRK2 mutation R1441G inhibits neuronal differentiation of neural stem cells.
|
23600457 |
2013 |
|
rs33939927
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, lipopolysaccharide (LPS)-activated microglial cells from mice overexpressing the Parkinson's disease-linked LRRK2(R1441G) mutation exhibit increased expression and secretion of proinflammatory cytokines compared with wild-type control microglia.
|
22342962 |
2012 |
|
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 |