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Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters early neurodevelopment.
These results strongly suggest that PNPLA9 (show PLA2G6 Proteins), -6 and -4 play a key role in GPL (show IL31RA Proteins) turnover and homeostasis in human cells. A hypothetical model suggesting how these enzymes could recognize the relative concentration of the different GPLs is proposed
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.
Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A (show CYP7B1 Proteins)), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
inducible, neuron-specific expression of full-length human wildtype NTE reduces vacuole formation and substantially rescues mobility.
Eight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase.
PNPLA6 has a role in photoreceptor survival; its mutations are linked to photoreceptor degeneration and various forms of childhood blindness
we found a novel compound heterozygous mutation and a novel homozygous one in the PNPLA6 gene in two Japanese patients with BNS.
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.
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.
the expression of CaMKIIalpha 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
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 Proteins), and that tubulovesicular inclusions can be seen in spongiform encephalopathy of other etiologies and are not pathognomonic of prion (show PRNP Proteins) disease
These results demonstrate an important role of PNPLA6 in motor neuron development.
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