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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.
Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters early neurodevelopment.
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
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), 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 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.
PNPLA6 influences a manifold of neuronal systems, from the retina to the cerebellum, upper and lower motor neurons and the neuroendocrine system
Neuronal phospholipid deacylation is essential for axonal and synaptic integrity through the action of iPLA2 and NTE.
These results suggested for the first time that NTE is a cell cycle-dependent protein.
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.
Endogenous NTE activity was increased by cAMP-elevating chemicals, but decreased by the adenyl cyclase inhibitor SQ22536 which can reduce intracellular cAMP levels.
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.
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
The mutations found in association with NTE-related motor neuron disease have functional correlates in altered enzymological properties of NTE.
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