Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features.
Rivero M et al.
International Journal of Molecular Sciences, 2024
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Chi W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
Barile A et al.
International Journal of Molecular Sciences, 2021
Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.
Ghatge MS et al.
Biochimie, 2021
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M et al.
Clinical Genetics, 2021
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Barile A et al.
Scientific Reports, 2020
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
di Salvo ML et al.
Molecular Genetics and Metabolism, 2017
Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
Patel J et al.
Indian Journal of Pediatrics, 2016
Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site.
Ghatge MS et al.
Febs Open Bio, 2016
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB et al.
Brain : a Journal of Neurology, 2014
Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.
Musayev FN et al.
The Journal of Biological Chemistry, 2009
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Khayat M et al.
Molecular Genetics and Metabolism, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.
Bagci S et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2008
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Hoffmann GF et al.
Journal of Inherited Metabolic Disease, 2007