PLA2G6 Antibody

1. This study showed that PANK2 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
2. A lipidomics-based LC/MS assay was used to define the specificity of cPLA2, iPLA2, and sPLA2 toward a variety of phospholipids. A unique hydrophobic binding site for the cleaved fatty acid dominates each enzyme's specificity rather than its catalytic residues and polar headgroup binding site. PMID: 29342349
3. This exome sequencing in a family and identified compound-heterozygous PLA2G6 mutations in 2 affected sisters. PMID: 27709683
4. PLA2G6 gene mutations in 3 families, are reported. PMID: 28295203
5. The catalytic domains of iPLA2beta form a tight dimer and surrounded by ankyrin repeat domains that adopt an outwardly flared orientation, poised to interact with membrane proteins. PMID: 29472584
6. performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6-positive infantile neuronal axonal dystrophy PMID: 28091863
7. We found no significant influence of the PLA2G6 and PLA2G4C polymorphisms on mean age at first hospital admission (P > 0.05) and that the investigated polymorphisms significantly influenced the clinical psychopathology only in male patients. The PLA2G4C polymorphism accounted for approximately 12% of negative symptom severity. PMID: 28651698
8. Study performed direct sequencing and investigated copy number variations (CNVs) of this gene in 109 Japanese patients with parkinsonism. Results suggest that CNV in PLA2G6 is rare in parkinsonism, at least in the Japanese population, in contrast to the reports of its frequency in neurodegeneration associated with brain iron accumulation. PMID: 27942883
9. the association of PLA2G6 with the pathogenesis of idiopathic PD, in addition to PARK14. PMID: 28213071
10. A novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). PMID: 28821231
11. PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy, atypical late-onset neuroaxonal dystrophy and dystonia parkinsonism complex in Indian families PMID: 27196560
12. This study identifies a novel PLA2G6 mutation that is the possible genetic cause of FCMTE in this Chinese family. PMID: 27513994
13. Finding suggest the broadness of the clinical spectrum of group VI phospholipases A2 (PLA2G6)-related neurodegeneration. PMID: 27268037
14. A homozygous novel mutation at position c.2277-1G>C in PLA2G6 gene presumed to give rise to altered splicing, was detected, thus confirming the diagnosis of infantile Neuroaxonal Dystrophy (INAD). PMID: 25348461
15. Three catalytically active cPLA2, iPLA2, and sPLA2 are expressed in different areas within the human spermatozoon cell body. Spermatozoa with a significant low motility showed strong differences both in terms of total specific activity and of different intracellular distribution, compared with normal spermatozoa. Phospholipases could be potential biomarkers of asthenozoospermia. PMID: 26446356
16. This study demonstrated that elevated expression of alphaSyn/PalphaSyn in mitochondria appears to be the early response to PLA2G6-deficiency in neurons. PMID: 27030050
17. Stimulation of adrenoreceptors causes increased iPLA2 expression via MAP kinase/ERK 1/2. PMID: 25482049
18. genetic association study in Quebec City population: Data suggest total plasma n-6 fatty acid phospholipid levels and C-reactive protein are modulated by SNPs in PLA2G4A and PLA2G6 alone or in combination with fish oil dietary supplementation. PMID: 26525102
19. Mutations in PLA2G6 altered Golgi morphology, O-linked glycosylation and sialylation of protein in patients with neurodegeneration PMID: 26668131
20. PLA2G6 mutations in Indian patients with infantile neuroaxonal dystrophy and atypical late-onset neuroaxonal dystrophy PMID: 27196560
21. Results demonstrated no significant impact of PLA2G6 and PLA2G4C gene polymorphisms on attenuated niacin skin flushing in schizophrenia patients. PMID: 26160611
22. Analysis of the cells from idiopathic Parkinson's disease patients reveals a significant deficiency in store-operated PLA2g6-dependent Ca(2+) signalling PMID: 26755131
23. Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN PMID: 25668476
24. our findings demonstrate that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. PMID: 26001724
25. genetic association studies in a population of Han Chinese: Data suggest that SNPs in PLA2G6 (rs132984; rs2284060) are associated with type 2 diabetes and hypertriglyceridemia in the population studied. [Meta-Analysis included] PMID: 25207958
26. The loss of PS2 could have a critical role in lung tumor development through the upregulation of iPLA2 activity by reducing gamma-secretase. PMID: 24858037
27. Novel PLA2G6 mutations were identified in all patients with Phospholipase A2 associated neurodegeneration. PMID: 24745848
28. our findings indicate that PRDX6 promotes lung tumor growth via increased glutathione peroxidase and iPLA2 activities PMID: 24512906
29. IL-1beta and IFNgamma induces mSREBP-1 and iPLA2beta expression and induce beta-cell apoptosis. PMID: 25004092
30. The significance of calcium-independent phospholipase A, group VIA (iPLA2-VIA), in retinal pigment epithelial cell survival, was investigated. PMID: 24791136
31. clinical findings may be helpful in distinguishing PLA2G6-related neurodegeneration from the other major cause of NBIA, recessive PANK2 mutations. PMID: 24522175
32. the phenotype of neurodegeneration associated with PLA2G6 mutations PMID: 24130795
33. This study demonistrated that PLA2g8 expression was significantly decreased in patients treated with antipsychotic drug. PMID: 23587695
34. The association with bipolar disorder of the iPLA2beta (PLA2G6) its genetic interaction with type 2 transient receptor potential channel gene TRPM2, was examined. PMID: 23277130
35. identified four rare PLA2G6 mutations in 250 PD patients in Chinese population with Parkinson's disease PMID: 23182313
36. Mutations in PLA2G6 is often associated with rapidly progressive parkinsonism and with additional features including pyramidal signs, cognitive decline and loss of sustained Levodopa responsiveness. PMID: 23196729
37. Neuronal phospholipid deacylation is essential for axonal and synaptic integrity through the action of iPLA2 and NTE. (Review) PMID: 22903185
38. Orai1 and PLA2g6 are involved in adhesion formation, whereas STIM1 participates in both adhesion formation and disassembly. PMID: 23043102
39. Findings reveal for the first time expression of iPLA(2)beta protein in human islet beta-cells and that induction of iPLA(2)beta during endoplasmic reticulum stress contributes to human islet beta-cell apoptosis. PMID: 23074238
40. membrane composition and the presence of nucleotides play key roles in recruiting and modulating GVIA-iPLA(2) activity in cells PMID: 23007400
41. The present study confirms the involvement of iPLA(2)-VIA in efficient retinal pigment epithelium phagocytosis of photoreceptor outer segments. PMID: 22680611
42. Different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including dystonia-parkinsonism. PMID: 19087156
43. The results of this study suggested that PLA2G6 is not a susceptibility gene for parkinson disease in our population. PMID: 22459563
44. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic early-onset parkinsonism. PMID: 22406380
45. These data confirm the role of iPLA(2)beta as an essential mediator of endogenous store operated calcium entry. PMID: 22549787
46. This report further defines the clinical features and neuropathology of PLA2G6 related childhood and adult onset dystonia-parkinsonism . PMID: 20619503
47. PLA2G6 mutations are associated with PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease PMID: 22213678
48. acts as an inhibitory modulator of NKCC2 activity in thick ascending limb PMID: 22218592
49. A possible involvement of calcium-independent group VI phospholipase A2 (iPLA2-VI) in the pathogenesis of Parkinson's disease has been proposed. PMID: 21812034
50. data indicate that PLA2G6 mutation may not play a major role in general frontotemporal type of dementia PMID: 21482170

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HGNC: 9039

OMIM: 256600

KEGG: hsa:8398

STRING: 9606.ENSP00000333142

UniGene: Hs.170479