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Human Polyclonal PNPLA6 Primary Antibody for ELISA - ABIN4239084
Rainier, Bui, Mark, Thomas, Tokarz, Ming, Delaney, Richardson, Albers, Matsunami, Stevens, Coon, Leppert, Fink: Neuropathy target esterase gene mutations cause motor neuron disease. in American journal of human genetics 2008
the loss of SWS in glia impairs neuronal function.
inducible, neuron-specific expression of full-length human wildtype NTE reduces vacuole formation and substantially rescues mobility.
OP-modified SWS cannot release PKA-C3 and the resulting loss of PKA-C3 activity plays a crucial role in developing the delayed symptoms of organophosphate-induced delayed neuropathy but not in the acute toxicity
Endogenous Plastic Somatic (ePS) cells in a latent state, i.e. lacking SOX2 (show SOX2 Antibodies), OCT3/4 (show POU5F1 Antibodies) and NANOG (show NANOG Antibodies) (SON) expression, in non-diseased breast specimens through immunohistochemical analysis of previously identified ePS-specific biomarkers (CD73(+), EpCAM (show EPCAM Antibodies)(+) and CD90 (show THY1 Antibodies)(-)).
Down-regulation of CD73 on B cells of patients with viremic HIV correlates with B cell activation (show BLNK Antibodies) and disease progression.
CD73 expression is upregulated in NSCLC and is correlated with a decrease in miR (show MLXIP Antibodies)-30a-5p expression.
These results strongly suggest that PNPLA9 (show PLA2G6 Antibodies), -6 and -4 play a key role in GPL (show IL31RA Antibodies) turnover and homeostasis in human cells. A hypothetical model suggesting how these enzymes could recognize the relative concentration of the different GPLs is proposed
concluded that CD39 (show ENTPD1 Antibodies) and CD73 are molecular targets for the development of drugs for ALF (show GTF2A1L Antibodies) patients care
Genetic polymorphism of NT5E (show NT5E Antibodies) may contribute to the pathogenesis of calcific aortic valve disease.
Oxidized low density lipoproteins modulate CD39 (show ENTPD1 Antibodies) and CD73 activity in the endothelium.
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.
This study aimed to investigate the activities of purinergic system ecto (show TRIM33 Antibodies)-enzymes present on the platelet surface as well as CD39 (show ENTPD1 Antibodies) and CD73 expressions on platelets of sickle cell anemia treated patients.
Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A (show CYP7B1 Antibodies)), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
the expression of CaMKIIalpha (show CAMK2 Antibodies) and pCREB exhibits a significant increase in cortex and hippocampus after treatment with PFOS, compared with the control.
NTE has a role in neural development and in the neurodegeneration induced by organophosphate compounds in mice
mouse brain neuropathy target esterase is a lysophospholipase (show ASPG Antibodies)
impairment of vasculogenesis in the yolk sacs and embryos of null mutant conceptuses suggested that NTE is required for normal blood vessel development
Increase of neuropathy target esterase (NTE) expression contributes to increased production and accumulation of glycerophosphocholine in mammalian renal cells in tissue culture and in vivo.
We conclude that spongiform pathology in conditional NTE knockout mice is not mediated by PrPc (show PRNP Antibodies), and that tubulovesicular inclusions can be seen in spongiform encephalopathy of other etiologies and are not pathognomonic of prion (show PRNP Antibodies) disease
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene.
neuropathy target esterase
, patatin-like phospholipase domain-containing protein 6
, Swiss cheese
, LOW QUALITY PROTEIN: neuropathy target esterase