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Disease on EC 1.4.3.5 - pyridoxal 5'-phosphate synthase

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DISEASE
TITLE OF PUBLICATION
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Brain Diseases
Molecular basis of reduced Pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency.
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Carcinoma
Nephrotoxicity Profile of Cadmium Revealed by Proteomics in Mouse Kidney.
Carcinoma, Ductal
Pyridoxine 5'-phosphate oxidase is correlated with human breast invasive ductal carcinoma development.
Carcinoma, Hepatocellular
Azo dye-induced alterations in vitamin B-6 metabolism and in pyridoxal 5'-phosphate-binding proteins in rat liver.
Vitamin B6 metabolism in liver and liver-derived tumors.
Vitamin B6 metabolism in Morris hepatomas.
Carcinoma, Ovarian Epithelial
Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-? signalling pathway in epithelial ovarian cancer.
Epilepsy
Allosteric feedback inhibition of pyridoxine 5'-phosphate oxidase from Escherichia coli.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Enhanced pyridoxal 5'-phosphate synthetic enzyme immunoreactivities do not contribute to GABAergic inhibition in the rat hippocampus following pilocarpine-induced status epilepticus.
Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.
Epstein-Barr Virus Infections
Proteomics Analysis of Gastric Epithelial AGS Cells Infected with Epstein-Barr Virus.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
A simple fluorimetric assay for pyridoxamine phosphate oxidase in erythrocyte haemolysates: effects of riboflavin supplementation and of glucose 6-phosphate dehydrogenase deficiency.
Glutathione reductase activity and its relationship to pyridoxine phosphate activity in G6PD deficiency.
Glucosephosphate Dehydrogenase Deficiency
Glutathione reductase activity and its relationship to pyridoxine phosphate activity in G6PD deficiency.
Hypertension
Pyridoxine 5'-phosphate oxidase is a candidate gene responsible for hypertension in Dahl-S rats.
Hypoxia-Ischemia, Brain
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Vitamin B6 related epilepsy during childhood.
Melanoma
Cutaneous metabolism of vitamin B-6.
Neoplasms
Cutaneous metabolism of vitamin B-6.
Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-? signalling pathway in epithelial ovarian cancer.
Vitamin B6 metabolism in Morris hepatomas.
Nervous System Diseases
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
pyridoxal 5'-phosphate synthase deficiency
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
A nutritional conditional lethal mutant due to pyridoxine 5'-phosphate oxidase deficiency in Drosophila melanogaster.
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
Vitamin B6 related epilepsy during childhood.
Riboflavin Deficiency
A simple fluorimetric assay for pyridoxamine phosphate oxidase in erythrocyte haemolysates: effects of riboflavin supplementation and of glucose 6-phosphate dehydrogenase deficiency.
Effect of strain, sex and dietary riboflavin on pyridoxamine (pyridoxine) 5'-phosphate oxidase activity in rat tissues.
Seizures
Chronological changes in pyridoxine-5'-phosphate oxidase immunoreactivity in the seizure-sensitive gerbil hippocampus.
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Enhanced pyridoxal 5'-phosphate synthetic enzyme immunoreactivities do not contribute to GABAergic inhibition in the rat hippocampus following pilocarpine-induced status epilepticus.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Neonatal vitamin-responsive epileptic encephalopathies.
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency.
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
Vigabatrin inhibits pyridoxine-5'-phosphate oxidase, not pyridoxal kinase in the hippocampus of seizure prone gerbils.
Status Epilepticus
Enhanced pyridoxal 5'-phosphate synthetic enzyme immunoreactivities do not contribute to GABAergic inhibition in the rat hippocampus following pilocarpine-induced status epilepticus.
Tauopathies
Identification of non-Alzheimer's disease tauopathies-related proteins by proteomic analysis.
Tuberculosis
Cloning, expression, purification, crystallization and preliminary X-ray studies of a pyridoxine 5'-phosphate oxidase from Mycobacterium smegmatis.
Crystal structure of a putative pyridoxine 5'-phosphate oxidase (Rv2607) from Mycobacterium tuberculosis.
Rv2607 from Mycobacterium tuberculosis is a pyridoxine 5'-phosphate oxidase with unusual substrate specificity.
The molecular structure of Rv2074, a probable pyridoxine 5'-phosphate oxidase from Mycobacterium tuberculosis, at 1.6 angstroms resolution.
Vitamin B 6 Deficiency
Pyridoxamine (pyridoxine) 5'-phosphate oxidase activity in rat tissues during development of riboflavin or pyridoxine deficiency.