Results 241 to 250 of about 24,465 (266)

Inhibitors of the enzyme purine nucleoside phosphorylase

Expert Opinion on Therapeutic Patents, 1998
The enzyme purine nucleoside phosphorylase (PNP) catalyses the reversible cleavage of purine nucleosides to the purine base and ribose-1-phosphate. Several cases of a rare genetic disorder in which PNP is lacking have been reported in children. These children were found to be T-cell immunodeficient while their B-cell immunity remained normal.
Philip E. Morris, John A. Montgomery
openaire   +2 more sources

Genetic Variability of Purine Nucleoside Phosphorylase in the Mouse

1984
The inherited human deficiency of purine nucleoside phosphorylase is associated primarily with cellular immune dysfunction1. We have begun to screen for quantitative activity variants of purine nucleoside phosphorylase in Mus musculus in attempts to establish an animal model for the enzyme deficiencies associated with immunodeficiency disease.
Marcia J. Sparling, Trevor Lukey, Fred G. Biddle, Floyd F. Snyder   +3 more
openaire   +3 more sources

Homooligomerization is needed for stability: a molecular modelling and solution study of Escherichia coli purine nucleoside phosphorylase

The FEBS Journal, 2014
Although many enzymes are homooligomers composed of tightly bound subunits, it is often the case that smaller assemblies of such subunits, or even individual monomers, seem to have all the structural features necessary to independently conduct catalysis.
B. Bertoša, Goran Mikleušević, B. Wielgus-Kutrowska, M. Narczyk, Matea Hajnić, Ivana Leščić Ašler, S. Tomić, M. Luić, A. Bzowska   +8 more
semanticscholar   +1 more source

Purine nucleoside phosphorylase polymorphism in sheep erythrocytes

Biochemical Genetics, 1977
A polymorphism of purine nucleoside phosphorylase is described in sheep erythrocytes. Two isozymes were distinguished electrophoretically, one with high activity (NP-1) and one with low activity (NP-2). Breeding data suggest that the two isozymes are the product of two codominant alleles, NP1 and NP2.
P. G. Board, J. E. Smith
openaire   +3 more sources

Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.

European Journal of Medical Genetics, 2022
Basak Torun, A. Bilgin, D. Orhan, R. Gocmen, Ş. Kılıç, B. Kuşkonmaz, D. Çetinkaya, I. Tezcan, D. Çağdaş   +8 more
semanticscholar   +1 more source

Chapter 3. Purine Nucleoside Phosphorylase

2007
Purine nucleoside phosphorylase (PNP) catalyzes the reversible phosphorolysis of purine ribonucleosides and 2′-deoxypurine ribonucleosides to the free base, and ribose 1-phosphate or 2′-deoxyribose 1-phosphate, respectively.1–3 PNPs are found in most prokaryotic and eukaryotic organisms where the en...
Steven E. Ealick, Yang Zhang
openaire   +2 more sources

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

Nucleosides, Nucleotides and Nucleic Acids, 2011
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder affecting purine degradation and salvage pathways. Clinically, patients typically present with severe immunodeficiency, neurological dysfunction, and autoimmunity. Biochemically, PNPase deficiency may be suspected in the presence of hypouricemia.
A. Corrigan, Monica Arenas, Anthony M. Marinaki, Emilia Escuredo, Lynette D. Fairbanks, P. L. C. Walker   +5 more
openaire   +3 more sources

Functional analysis of purine nucleoside phosphorylase as a key enzyme in ribavirin metabolism.

Drug Metabolism and Pharmacokinetics, 2014
Ribavirin is a purine nucleoside analogue that possesses potent anti-hepatitis C virus activity, and it has long been considered likely that ribavirin undergoes a first-pass metabolism at the small intestine. Although purine nucleoside phosphorylase (PNP)
Tomomi Furihata, S. Kishida, Hanae Sugiura, Atsuko Kamiichi, Minami Iikura, K. Chiba   +5 more
semanticscholar   +1 more source

[73] Chinese hamster purine nucleoside phosphorylase

1978
Publisher Summary This chapter describes the purification procedure of nucleoside phosphorylase enzyme from Chinese hamster V79 tissue culture cells. Purine nucleoside phosphorylase (purine nucleoside: orthophosphate ribosyltransferase) in eukaryotes catalyzes the reversible conversion among the purine bases, hypoxanthine and guanine, and their ...
openaire   +3 more sources

Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies

Current Opinion in Allergy and Clinical Immunology, 2013
Purpose of the reviewTo review the recent advances in the understanding and management of the immune and nonimmune effects of inherited adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies.
E. Grunebaum, A. Cohen, C. Roifman
semanticscholar   +1 more source