Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Parkinson's disease-associated <i>iPLA2-VIA/</i>PLA2G6 regulates neuronal functions and α-synuclein stability through membrane remodeling.
|
31548400 |
2019 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14).
|
30302010 |
2019 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD).
|
30978640 |
2019 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14).
|
31493761 |
2019 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data support that pla2g6 is relevant for cranial motor development with significant implications in the pathophysiology underlying Parkinson's disease.
|
29344929 |
2018 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, rotenone-induced cellular model of PD was used to investigate possible molecular pathogenic mechanism of PARK14 mutant PLA2G6-induced PD.
|
29108286 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, we performed immunohistochemistry and immunoblotting to clarify the involvement of PDHA1 in idiopathic PD, DLB, PARK14-linked parkinsonism (PARK14; a familial form of PD), and multiple system atrophy, in comparison with normal controls.
|
28564592 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results further reinforce the association of PLA2G6 with the pathogenesis of idiopathic PD, in addition to PARK14.
|
28213071 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease.
|
26755131 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autosomal recessive mutations in the genes Parkin, Pink1, DJ-1, ATP13A2, PLA2G6, and FBXO7 have been linked to PD susceptibility.
|
25197640 |
2014 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.
|
23182313 |
2013 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The role of PLA2G6 mutations as a risk factor for Parkinson's disease is not clear.
|
22213678 |
2012 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that PLA2G6 is not a susceptibility gene for PD in our population.
|
22459563 |
2012 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, combined with the previous report, our findings emphasize that PLA2G6 mutations are unlikely to be the major causes or risk factors of PD at least in Asian populations.
|
21368765 |
2011 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium-independent group VI phospholipase A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.
|
21812034 |
2011 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based on the clinical heterogeneity, the functional roles of PLA2G6 and the roles of PLA2G6 variants including single heterozygous mutations should be further elucidated in patients with atypical parkinsonism, dementia, or Parkinson disease.
|
20938027 |
2010 |