Associated Papers
A near-complete map of human cytosolic degrons and their relevance for disease.
Voutsinos V et al.
Science Advances, 2026
Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons.
Webster R et al.
Jimd Reports, 2026
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment.
Lee JZC et al.
Molecular Genetics and Metabolism Reports, 2025
A complete map of human cytosolic degrons and their relevance for disease.
Voutsinos V et al.
Biorxiv : the Preprint Server for Biology, 2025
Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5'-phosphate therapy?
De Liso P et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Genetic vitamin B6 deficiency and alcohol interaction in behavior and metabolism.
Wang B et al.
Biorxiv : the Preprint Server for Biology, 2025
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Maharaj AV et al.
Nature Communications, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 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
Complexities of pyridoxine response in PNPO deficiency.
Farmania R et al.
Epilepsy & Behavior Reports, 2021
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Barile A et al.
Scientific Reports, 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
Update on the treatment of vitamin B6 dependent epilepsies.
Mastrangelo M et al.
Expert Review of Neurotherapeutics, 2019
Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.
Accorsi P et al.
Clinical Neurology and Neurosurgery, 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
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
Patel J et al.
Indian Journal of Pediatrics, 2016
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.
Hatch J et al.
Jimd Reports, 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
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.
Sudarsanam A et al.
Jimd Reports, 2014
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
Goyal M et al.
Pediatric Neurology, 2013
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Schmitt B et al.
Developmental Medicine and Child Neurology, 2010
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Hoffmann GF et al.
Journal of Inherited Metabolic Disease, 2007