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Pyridoxine 5'-phosphate oxidase

Pyridoxaminephosphate Oxidase, PNPO, pyridoxine 5'-phosphate oxidase
rate-limiting enzyme in pyridoxal 5-phosphate (PLP) biosynthesis [RGD, Feb 2006] (from NCBI)
Top mentioned proteins: PLP, ACID, AGE, STEP, PNP
Papers on Pyridoxaminephosphate Oxidase
Effect of exogenous hormones on transcript levels of pyridoxal 5'-phosphate biosynthetic enzymes in the silkworm (Bombyx mori).
Huang et al., Hefei, China. In Comp Biochem Physiol B Biochem Mol Biol, Feb 2016
Through a salvage pathway, pyridoxal 5'-phosphate is synthesized from pyridoxal, pyridoxine or pyridoxamine, in a series of reactions catalyzed by pyridoxal kinase and pyridoxine 5'-phosphate oxidase.
Degradation of Stop Codon Read-through Mutant Proteins via the Ubiquitin-Proteasome System Causes Hereditary Disorders.
Naito et al., Kashiwa, Japan. In J Biol Chem, Dec 2015
In humans, 20 read-through mutations are related to hereditary disorders, and extended peptides found in human PNPO and HSD3B2 similarly destabilize these proteins, involving TRIM21 for PNPO degradation.
Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.
Mercimek-Mahmutoglu et al., Toronto, Canada. In J Child Neurol, Aug 2015
She had novel homozygous pathogenic frameshift mutation (c.448_451del;p.Pro150Argfs*27) in the PNPO gene.
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
Riney et al., Brisbane, Australia. In Jimd Rep, Jul 2015
PNPO gene sequencing identified homozygosity for a novel variant in exon 7, c.637C>T (p.Pro213Ser).
Highly active chromium-based selective ethylene tri-/tetramerization catalysts supported by PNPO phosphazane ligands.
Zhang et al., Shanghai, China. In Dalton Trans, Jun 2015
Novel Cr(iii) catalysts supported by PNPO phosphazane ligands of the type Ph2PN(R)P(Ph)OAr have been prepared, all of which, upon activation with MMAO-3A, are highly active in ethylene tri-/tetramerization with considerable selectivity.
Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
Shotelersuk et al., Thailand. In Genet Mol Res, 2014
Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO).
A preterm neonate with seizures unresponsive to conventional treatment.
Del Giudice et al., Napoli, Italy. In Bmj Case Rep, 2014
Sequencing of the pyridox(am)ine 5'-phosphate oxidase (PNPO) gene revealed a heterozygous insertion of a single base in exon 7. The second allele was found to be normal although the patient may carry a mutation in another gene of the vitamin B6 pathway.
The genetic landscape of infantile spasms.
Rossignol et al., Montréal, Canada. In Hum Mol Genet, 2014
Several pathogenic mutations were identified, including de novo mutations in STXBP1, CASK and ALG13, as well as recessive mutations in PNPO and ADSL, together explaining 28% of cases (5/18).
A nutritional conditional lethal mutant due to pyridoxine 5'-phosphate oxidase deficiency in Drosophila melanogaster.
Zhuang et al., Chicago, United States. In G3 (bethesda), 2014
We identified a nutritional conditional lethal mutant and localized a c.95C > A mutation in the Drosophila pyridoxine 5'-phosphate oxidase gene [dPNPO or sugarlethal (sgll)] using meiotic recombination mapping, deficiency mapping, and whole genome sequencing.
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Hofer et al., Zürich, Switzerland. In Neurology, 2014
OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations.
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.
Webster et al., Sydney, Australia. In Jimd Rep, 2013
We report the case of an 8-year-old boy with pyridoxamine 5'-phosphate oxidase (PNPO) deficiency.
Genetics of the epilepsies: where are we and where are we going?
Lowenstein et al., Kiel, Germany. In Curr Opin Neurol, 2013
A genome-wide association study in idiopathic generalized epilepsy revealed the first common risk variants for human seizure disorders including variants in VRK2, PNPO and SCN1A.
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Leuzzi et al., Roma, Italy. In Pediatr Neurol, 2012
We summarize recent updates on the genes and related clinical syndromes involved in the pathogenesis of early-onset epileptic encephalopathies: Aristaless-related homeobox (ARX), cyclin-dependent kinase-like 5 (CDKL5), syntaxin-binding protein 1 (STXBP1), solute carrier family 25 member 22 (SLC25A22), nonerythrocytic α-spectrin-1 (SPTAN1), phospholipase Cβ1 (PLCβ1), membrane-associated guanylate kinase inverted-2 (MAGI2), polynucleotide kinase 3'-phosphatase (PNKP), sodium channel neuronal type 1α subunit (SCN1A), protocadherin 19 (PCDH19), and pyridoxamine 5-prime-phosphate oxidase (PNPO).
Biomedical aspects of pyridoxal 5'-phosphate availability.
Contestabile et al., Roma, Italy. In Front Biosci (elite Ed), 2011
In humans, PLP is recycled from food and from degraded PLP-dependent enzymes in a salvage pathway requiring the action of pyridoxal kinase, pyridoxine 5'-phosphate oxidase and phosphatases.
Vitamin B(6) salvage enzymes: mechanism, structure and regulation.
Safo et al., Roma, Italy. In Biochim Biophys Acta, 2011
In animals, pyridoxal 5'-phosphate is recycled from food and from degraded B(6)-enzymes in a "salvage pathway", which essentially involves two ubiquitous enzymes: an ATP-dependent pyridoxal kinase and an FMN-dependent pyridoxine 5'-phosphate oxidase.
It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase.
Fitzpatrick et al., Genève, Switzerland. In Plos One, 2010
provide evidence that a single arginine residue of the C terminus of pyridoxal 5'-phosphate synthase is responsible for coordinating co-operativity in this elaborate protein machinery
Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.
Safo et al., Richmond, United States. In J Biol Chem, 2009
PNP oxidase R229W mutation identified in patients with neonatal epileptic encephalopathy sgnificantly affect the catalytic efficiency of the enzyme.
Pyridoxine 5'-phosphate oxidase, not pyridoxal kinase, involves in long-term potentiation induction in the rat dentate gyrus.
Kang et al., South Korea. In Hippocampus, 2009
PNPO may play a role in activity-dependent regulation of PLP level in the brain, which is involved in LTP induction and paired-pulse facilitation but not in enhancement of GABAergic inhibition.
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Falik-Zaccai et al., Nahariyya, Israel. In Mol Genet Metab, 2008
Sequencing of the PNPO gene revealed a novel homozygous nonsense mutationt in exon 3 in the neonatal and infantile seizure.
Association between PNPO and schizophrenia in the Japanese population.
Ohmori et al., Tokushima, Japan. In Schizophr Res, 2007
We examined 8 single nucleotide polymorphisms (SNPs) in PNPO and its 5'-flanking regions in 359 schizophrenia patients and 582 control subjects.
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