| Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. | Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.
Clark NE, Katolik A, Gallant P, Welch A, Murphy E, Buerer L, Schorl C, Naik N, Naik MT, Holloway SP, Cano K, Weintraub ST, Howard KM, Hart PJ, Jogl G, Damha MJ, Fairbrother WG., Free PMC Article | 10/4/2023 |
| Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy. | Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
Barile A, Mills P, di Salvo ML, Graziani C, Bunik V, Clayton P, Contestabile R, Tramonti A., Free PMC Article | 01/8/2022 |
| Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency. | Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M, Bashiri FA, Abdelhakim M, Adly N, Jamjoom DZ, Sumaily KM, Alghanem B, Arold ST., Free PMC Article | 10/2/2021 |
| Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy. | Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.
Barile A, Nogués I, di Salvo ML, Bunik V, Contestabile R, Tramonti A., Free PMC Article | 01/16/2021 |
| results reveal the biological function and a regulatory mechanism of PNPO, in which the MALAT1/miR-216b-5p/PNPO axis may be important in breast invasive ductal carcinoma development | Pyridoxine 5'-phosphate oxidase is correlated with human breast invasive ductal carcinoma development.
Ren W, Guan W, Zhang J, Wang F, Xu G., Free PMC Article | 05/30/2020 |
| TGF-beta1-mediated PNPO expression was at least in part through the upregulation of miR-143-3p in epithelial ovarian cancer. | Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.
Zhang L, Zhou D, Guan W, Ren W, Sun W, Shi J, Lin Q, Zhang J, Qiao T, Ye Y, Wu Y, Zhang Y, Zuo X, Connor KL, Xu G., Free PMC Article | 07/21/2018 |
| data support a pathogenic role of the c.347G>A (p.Arg116Gln) mutation in PNPO deficiency; the later onset of symptoms and the milder epilepsy phenotype of these expand the disease phenotype | Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. | 05/19/2018 |
| Exome sequencing revealed that the patient was compound heterozygous for pathogenic mutations [c.546+1G>A (IVS5+1 G>A) and c.620delG (p.G207VfsX215)] in the PNPO gene. | Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, Shotelersuk V. | 08/20/2016 |
| One sequence variant, R116Q, a single nucleotide polymorphism that has been reported in the general population, was found to have an effect on PNPO activity. | Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT., Free PMC Article | 06/14/2014 |
| Challenge to the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP in neonates with antiepileptic drug-resistant seizures. | Pyridoxine responsiveness in novel mutations of the PNPO gene.
Plecko B, Paul K, Mills P, Clayton P, Paschke E, Maier O, Hasselmann O, Schmiedel G, Kanz S, Connolly M, Wolf N, Struys E, Stockler S, Abela L, Hofer D., Free PMC Article | 06/7/2014 |
| Generalized epilepsies implicates susceptibility genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. | Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium, EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. | 06/1/2013 |
| provide evidence that a single arginine residue of the C terminus of pyridoxal 5'-phosphate synthase is responsible for coordinating co-operativity in this elaborate protein machinery | It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase.
Moccand C, Kaufmann M, Fitzpatrick TB., Free PMC Article | 08/6/2011 |
| PNP oxidase R229W mutation identified in patients with neonatal epileptic encephalopathy sgnificantly affect the catalytic efficiency of the enzyme. | Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.
Musayev FN, Di Salvo ML, Saavedra MA, Contestabile R, Ghatge MS, Haynes A, Schirch V, Safo MK., Free PMC Article | 01/21/2010 |
| Sequencing of the PNPO gene revealed a novel homozygous nonsense mutationt in exon 3 in the neonatal and infantile seizure. | PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Elisha MB, Wevers RA, Falik-Zaccai TC. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Association between PNPO and schizophrenia in the Japanese population.
Song H, Ueno S, Numata S, Iga J, Shibuya-Tayoshi S, Nakataki M, Tayoshi S, Yamauchi K, Sumitani S, Tomotake T, Tada T, Tanahashi T, Itakura M, Ohmori T, Song H, Ueno S, Numata S, Iga J, Shibuya-Tayoshi S, Nakataki M, Tayoshi S, Yamauchi K, Sumitani S, Tomotake T, Tada T, Tanahashi T, Itakura M, Ohmori T. | 03/13/2008 |
| We examined 8 single nucleotide polymorphisms (SNPs) in PNPO and its 5'-flanking regions in 359 schizophrenia patients and 582 control subjects. | Association between PNPO and schizophrenia in the Japanese population.
Song H, Ueno S, Numata S, Iga J, Shibuya-Tayoshi S, Nakataki M, Tayoshi S, Yamauchi K, Sumitani S, Tomotake T, Tada T, Tanahashi T, Itakura M, Ohmori T, Song H, Ueno S, Numata S, Iga J, Shibuya-Tayoshi S, Nakataki M, Tayoshi S, Yamauchi K, Sumitani S, Tomotake T, Tada T, Tanahashi T, Itakura M, Ohmori T. | 01/21/2010 |
| several mutations appear to cause epilepsy | Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. | 01/21/2010 |
| Results describe a combined computer and biochemical approach to characterize human pyridoxine 5'-phosphate oxidase (PNPO). | Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase.
Kang JH, Hong ML, Kim DW, Park J, Kang TC, Won MH, Baek NI, Moon BJ, Choi SY, Kwon OS. | 01/21/2010 |