Istituto di Biologia Ambientale e Forestale, Consiglio Nazionale delle Ricerche, Monterotondo Scalo, Roma, Italy
Manuela Tolve
Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Italy
Alessandro Paiardini
Dipartimento di Biologia e Biotecnologie âCharles Darwinâ, Sapienza Università di Roma, Italy
Carla Carducci
Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Italy
Davide Mei
Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Meyer, Università di Firenze, Italy
Martino Montomoli
Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Meyer, Università di Firenze, Italy
Angela Tramonti
Istituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, Roma, Italy
Renzo Guerrini
Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Meyer, Università di Firenze, Italy
Roberto Contestabile
Dipartimento di Scienze Biochimiche âA. Rossi Fanelliâ, Sapienza Università di Roma, Italy
Vincenzo Leuzzi
Dipartimento di Pediatria e Neuropsichiatria Infantile, Sapienza Università di Roma, Via dei Sabelli 108, 00141 Roma, Italy; Corresponding author. Fax: +39 064440232.
PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5â²-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and clinical expression remain to be established. One of these mutations, Arg116Gln, is of particular interest because of its later onset of symptoms (beyond the first months of life) and its peculiar epileptic manifestations in patients. This protein variant was expressed as recombinant protein in E coli, purified to homogeneity, and characterized with respect to structural and kinetic properties, stability, binding constants of cofactor flavin mononucleotide (FMN) and product (PLP) in order to define the molecular and structural bases of its pathogenicity.For interpretation and discussion of reported data, together with the description of clinical studies, refer to the article [1] (doi: 10.1016/j.ymgme.2017.08.003). Keywords: Pyridoxine-5â²-phosphate oxidase, Epilepsy, Children, Pyridoxine