PNPLA6 Antibody

1. This result further confirmed the role of PNPLA6 in BoucherNeuhauser syndrome (BNS) and suggested that whole exome sequencing may be applied for the diagnosis of complex syndromes, including BNS, prior to the observation of obvious symptoms. PMID: 29749493
2. Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters early neurodevelopment. PMID: 25255935
3. These results strongly suggest that PNPLA9, -6 and -4 play a key role in GPL turnover and homeostasis in human cells. A hypothetical model suggesting how these enzymes could recognize the relative concentration of the different GPLs is proposed PMID: 27317427
4. The unusual medical history with childhood ataxia and hypogonadotropic hypogonadism lead to further examinations and eventually the diagnosis of BNS. The older sister of the proband also displayed the triad of ataxia, HH and chorioretinal dystrophy accompanied by cerebellar atrophy and in 2014, we found the mutations in PNPLA6. PMID: 27866050
5. Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43). PMID: 26714052
6. inducible, neuron-specific expression of full-length human wildtype NTE reduces vacuole formation and substantially rescues mobility. PMID: 26671664
7. Eight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase. PMID: 25480986
8. PNPLA6 has a role in photoreceptor survival; its mutations are linked to photoreceptor degeneration and various forms of childhood blindness PMID: 25574898
9. we found a novel compound heterozygous mutation and a novel homozygous one in the PNPLA6 gene in two Japanese patients with BNS. PMID: 25631098
10. Data confirm PNPLA6 mutations as the leading cause of Boucher-Neuhauser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia. PMID: 25267340
11. These results suggest that hypogonadism-dependent alteration of phospholipid homeostasis in Gordon Holmes syndrome causes both neurodegeneration and impaired LH release from pituitary gonadotropes, leading to the disease. PMID: 25033069
12. The activity of NTE was higher in Sick building syndrome patients compared with controls. Population with an AA genotype of a single nucleotide polymorphism, rs480208, in intron 21 of the PNPLA6 gene strongly reduced the activity of NTE. PMID: 23418070
13. PNPLA6 influences a manifold of neuronal systems, from the retina to the cerebellum, upper and lower motor neurons and the neuroendocrine system PMID: 24355708
14. Neuronal phospholipid deacylation is essential for axonal and synaptic integrity through the action of iPLA2 and NTE. PMID: 22903185
15. These results suggested for the first time that NTE is a cell cycle-dependent protein. PMID: 20306302
16. Mutations in the neuropathy target esterase (NTE) gene cause autosomal recessive motor neuron disease. The features of affected subjects in the index families are described. PMID: 21171093
17. Endogenous NTE activity was increased by cAMP-elevating chemicals, but decreased by the adenyl cyclase inhibitor SQ22536 which can reduce intracellular cAMP levels. PMID: 20380879
18. Lack of correlation between reduced fibroblast NTE SA and the occurrence of NTE-MND in NTE insertion mutation heterozygotes indicates that reduction of NTE SA alone is insufficient to cause notor neuron disease. PMID: 20603202
19. used the NTE catalytic domain (NEST) to hydrolyze palmitoyl-2-hydroxy-sn-glycero-3-phosphocholine (p-lysoPC) to palmitic acid in bilayer membranes comprising DOPC and NBD-PC PMID: 20346913
20. The mutations found in association with NTE-related motor neuron disease have functional correlates in altered enzymological properties of NTE. PMID: 20382209
21. catalyzes hydrolysis of membrane lipids PMID: 11927584
22. Neuropathy target esterase and its homologues play a central role in membrane lipid homeostasis PMID: 15044461
23. All-trans retinoic acid -induced differentiation of the neuroblastoma cells with lowered NTE activity revealed that inhibition of NTE expression does not affect neural differentiation. PMID: 16010971
24. Results suggest that reduction of neuropathy target esterase does not affect process outgrowth or differentiation of neuroblastoma cells. PMID: 16122834
25. results suggest that the role of NTE over-expression in cell proliferation is associated with different mechanisms in different cells PMID: 16987144
26. These findings suggest that stimulation with phorbol 12-myristate 13-acetate reduces the expression of NTE mRNA levels but does not affect the exogenous promoter-driven NTE expression in mammalian cells. PMID: 17385009
27. NTE mutations in unrelated motor neuron disease patients indicate NTE's importance in maintaining axonal integrity. PMID: 18313024
28. the macroautophagy/lysosome pathway plays a role in controlling NTE quantity, providing a further understanding of the function of NTE. PMID: 19059269

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HGNC: 16268

OMIM: 215470

KEGG: hsa:10908

STRING: 9606.ENSP00000407509

UniGene: Hs.631863