PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease. 26755131 2016
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease. 23182313 2013
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE These findings suggest that PLA2G6 is not a susceptibility gene for PD in our population. 22459563 2012
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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