Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Genetic vitamin B6 deficiency and alcohol interaction in behavior and metabolism.
Wang B et al.
Biorxiv : the Preprint Server for Biology, 2025
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features.
Rivero M et al.
International Journal of Molecular Sciences, 2024
Identification of the pyridoxal 5'-phosphate allosteric site in human pyridox(am)ine 5'-phosphate oxidase.
Barile A et al.
Protein Science : a Publication of the Protein Society, 2024
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
Jiao X et al.
Human Molecular Genetics, 2023
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
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
Mastrangelo M
Metabolic Brain Disease, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Gibaud M et al.
Frontiers in Pediatrics, 2021
Complexities of pyridoxine response in PNPO deficiency.
Farmania R et al.
Epilepsy & Behavior Reports, 2021
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Barile A et al.
Scientific Reports, 2020
Exploiting loss of heterozygosity for allele-selective colorectal cancer chemotherapy.
Rendo V et al.
Nature Communications, 2020
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Ciapaite J et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
The effectiveness of correcting abnormal metabolic profiles.
Clayton PT
Journal of Inherited Metabolic Disease, 2020
Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox.
Mohanlal S et al.
Epilepsy & Behavior Reports, 2020
Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.
Lugli L et al.
Journal of Child Neurology, 2019
Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development.
Hassel B et al.
Frontiers in Psychiatry, 2019
Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency.
Chen PY et al.
Frontiers in Pharmacology, 2019
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
di Salvo ML et al.
Molecular Genetics and Metabolism, 2018
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
di Salvo ML et al.
Data in Brief, 2017
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.
Wilson MP et al.
Analytical Chemistry, 2017
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
Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.
Xue J et al.
Metabolic Brain Disease, 2017
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.
Cortès-Saladelafont E et al.
Seminars in Pediatric Neurology, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Mathis D et al.
Journal of Inherited Metabolic Disease, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
Levtova A et al.
Jimd Reports, 2015
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB et al.
Brain : a Journal of Neurology, 2014
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Plecko B et al.
Neurology, 2014