| Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations. | Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
Alizadeh Z, Badalzadeh M, Heydarlou H, Shakerian L, Mahlooji Rad M, Zandieh F, Fazlollahi MR., Free PMC Article | 03/11/2024 |
| Connecting Conformational Motions to Rapid Dynamics in Human Purine Nucleoside Phosphorylase. | Connecting Conformational Motions to Rapid Dynamics in Human Purine Nucleoside Phosphorylase.
Frost CF, Balasubramani SG, Antoniou D, Schwartz SD., Free PMC Article | 01/21/2023 |
| A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma. | A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
Al-Saud B, Al Alawi Z, Hussain FB, Hershfield M, Alkuraya FS, Al-Mayouf SM. | 09/18/2021 |
| The study suggests that mass-constrained femtosecond motions at the catalytic site of PNP can improve transition state barrier crossing by more frequent sampling of essential catalytic site contacts. | Inverse enzyme isotope effects in human purine nucleoside phosphorylase with heavy asparagine labels.
Harijan RK, Zoi I, Antoniou D, Schwartz SD, Schramm VL., Free PMC Article | 09/8/2018 |
| The PNP rs1049564 T allele is a loss-of-function variant that induces S-phase block and IFN pathway activation in lymphocytes. The S-phase block could be rescued in our in vitro experiments, suggesting the potential for personalized treatment. | Lupus-Associated Functional Polymorphism in PNP Causes Cell Cycle Abnormalities and Interferon Pathway Activation in Human Immune Cells.
Ghodke-Puranik Y, Dorschner JM, Vsetecka DM, Amin S, Makol A, Ernste F, Osborn T, Moder K, Chowdhary V, Eliopoulos E, Zervou MI, Goulielmos GN, Jensen MA, Niewold TB., Free PMC Article | 12/16/2017 |
| Data show that the mutations in purine nucleoside phosphorylase (PNP) alters the enthalpy-entropy balance with little effect on the catalytic rates. | Thermodynamics of the Purine Nucleoside Phosphorylase Reaction Revealed by Computer Simulations.
Isaksen GV, Åqvist J, Brandsdal BO. | 05/27/2017 |
| Data (including data from empirical valence bond/molecular dynamic simulations) suggest that PNP substrate specificity for inosine and guanosine is a direct result of electrostatic preorganization energy along the reaction coordinate. | Computer Simulations Reveal Substrate Specificity of Glycosidic Bond Cleavage in Native and Mutant Human Purine Nucleoside Phosphorylase.
Isaksen GV, Hopmann KH, Åqvist J, Brandsdal BO. | 09/3/2016 |
| the binding mechanism of a transition state analogue (DADMe-immucillin-H) to the purine nucleoside phosphorylase (PNP) enzyme, is reported. | The ligand binding mechanism to purine nucleoside phosphorylase elucidated via molecular dynamics and machine learning.
Decherchi S, Berteotti A, Bottegoni G, Rocchia W, Cavalli A., Free PMC Article | 02/6/2016 |
| Data show that [15N, 2H]His8-purine nucleoside phosphorylase (PNP) had reduced catalytic site chemistry larger than proportional to the enzymatic mass difference. | Isotope-specific and amino acid-specific heavy atom substitutions alter barrier crossing in human purine nucleoside phosphorylase.
Suarez J, Schramm VL., Free PMC Article | 01/16/2016 |
| Study of genetic heterogeneity in systemic lupus erythematosus, the top associations in European ancestry were protein kinase, cyclic GMP-dependent, type I (PRKG1) rs7897633 (P(Meta) = 2.75 x 10(-8)) and purine nucleoside phosphorylase (PNP) rs1049564 (P(Meta) = 1.24 x 10(-7)). | Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
Kariuki SN, Ghodke-Puranik Y, Dorschner JM, Chrabot BS, Kelly JA, Tsao BP, Kimberly RP, Alarcón-Riquelme ME, Jacob CO, Criswell LA, Sivils KL, Langefeld CD, Harley JB, Skol AD, Niewold TB., Free PMC Article | 08/8/2015 |
| Human small intestine is a key site for ribavirin phosphorolysis and that PNP is primarily involved in the metabolism. | Functional analysis of purine nucleoside phosphorylase as a key enzyme in ribavirin metabolism.
Furihata T, Kishida S, Sugiura H, Kamiichi A, Iikura M, Chiba K. | 12/20/2014 |
| insufficient data to evaluated impact of genetic polymorphisms on disease susceptibility | AS3MT, GSTO, and PNP polymorphisms: impact on arsenic methylation and implications for disease susceptibility.
Antonelli R, Shao K, Thomas DJ, Sams R 2nd, Cowden J. | 08/16/2014 |
| Complete lack of PNP triggers accumulation of deoxyguanosine, thereby disrupting B-cell development, the consequence of which is more profound with time, as was found in the older sister. | T- and B-cell defects in a novel purine nucleoside phosphorylase mutation.
Somech R, Lev A, Simon AJ, Hanna S, Etzioni A. | 10/20/2012 |
| Biochemical and genetic data on a cohort of seven patients from six families identified as PNPase deficient, is reported. | Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A. | 03/24/2012 |
| This study for the first time describes elevated levels of alpha synuclein in pancreatic adenocarcinoma as well as highlights the potential of evaluating NP protein expression. | Metabolites of purine nucleoside phosphorylase (NP) in serum have the potential to delineate pancreatic adenocarcinoma.
Vareed SK, Bhat VB, Thompson C, Vasu VT, Fermin D, Choi H, Creighton CJ, Gayatri S, Lan L, Putluri N, Thangjam GS, Kaur P, Shabahang M, Giri JG, Nesvizhskii AI, Asea AA, Cashikar AG, Rao A, McLoughlin J, Sreekumar A., Free PMC Article | 07/9/2011 |
| investigation of catalytic mechanisms involved in catalysis by PNP: transition states in arsenolysis and phosphorolysis | Arsenate and phosphate as nucleophiles at the transition states of human purine nucleoside phosphorylase.
Silva RG, Hirschi JS, Ghanem M, Murkin AS, Schramm VL., Free PMC Article | 06/4/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion.
Hwang YH, Chen YH, Su YN, Hsu CC, Chen YH, Yuan TH. | 06/30/2010 |
| Results show that some regions, responsible for entrance and exit of substrate, present a conformational variability, which is dissected by dynamics simulation analysis. | Crystal structure and molecular dynamics studies of human purine nucleoside phosphorylase complexed with 7-deazaguanine.
Caceres RA, Timmers LF, Pauli I, Gava LM, Ducati RG, Basso LA, Santos DS, de Azevedo WF Jr. | 05/10/2010 |
| PNP operating at maximum catalytic potential permits more rapid peptide amide deuterium exchange and greater conformational flexibility of water-peptide bond exchange rate than in either of the complexes with transition state analogues. | Conformational states of human purine nucleoside phosphorylase at rest, at work, and with transition state analogues.
Edwards AA, Tipton JD, Brenowitz MD, Emmett MR, Marshall AG, Evans GB, Tyler PC, Schramm VL., Free PMC Article | 05/3/2010 |
| Comparative analysis of the model of BfPNP and the structure of HsPNP allowed identification of structural features responsible for differences in the computationally determined ligand affinities | Molecular modeling and dynamics studies of purine nucleoside phosphorylase from Bacteroides fragilis.
Pauli I, Timmers LF, Caceres RA, Basso LA, Santos DS, de Azevedo WF Jr. | 01/21/2010 |
| Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase | Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase.
Edwards AA, Mason JM, Clinch K, Tyler PC, Evans GB, Schramm VL., Free PMC Article | 01/21/2010 |
| Results describe a tryptophan-free mutant of purine nucleoside phosphorylase and its dynamic activity. | Loop-tryptophan human purine nucleoside phosphorylase reveals submillisecond protein dynamics.
Ghanem M, Zhadin N, Callender R, Schramm VL., Free PMC Article | 01/21/2010 |
| Protein dynamics on the femtosecond to picosecond timescale are linked to enzymatic function. | Atomic detail of chemical transformation at the transition state of an enzymatic reaction.
Saen-Oon S, Quaytman-Machleder S, Schramm VL, Schwartz SD., Free PMC Article | 01/21/2010 |
| Structural studies on NP are reported with a view towards a new specific scoring function. | Structural studies of human purine nucleoside phosphorylase: towards a new specific empirical scoring function.
Timmers LF, Caceres RA, Vivan AL, Gava LM, Dias R, Ducati RG, Basso LA, Santos DS, de Azevedo WF Jr. | 01/21/2010 |
| Role of ionization of the phosphate cosubstrate on phosphorolysis by purine nucleoside phosphorylase | Role of ionization of the phosphate cosubstrate on phosphorolysis by purine nucleoside phosphorylase (PNP) of bacterial (E. coli) and mammalian (human) origin.
Modrak-Wójcik A, Kirilenko A, Shugar D, Kierdaszuk B. | 01/21/2010 |