Results 11 to 20 of about 20,168 (266)

Purine nucleoside phosphorylase deficiency

Atlas of Inherited Metabolic Diseases, 2020
People with purine nucleoside phosphorylase deficiency have low numbers of immune system cells called T cells, which normally recognize and attack foreign invaders to prevent infection.
C. Staufner
semanticscholar   +2 more sources

Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice

Neurobiology of Disease, 2012
Inherited defects in purine nucleoside phosphorylase (PNP) cause severe T cell immunodeficiency and progressive neurological dysfunction, yet little is known about the effects of PNP deficiency on the brain.
Alireza Mansouri, Weixian Min, Christina J. Cole, Sheena A. Josselyn, Jeffrey Theodore Henderson, Matthijs van Eede, R. Mark Henkelman, Cameron Ackerley, Eyal Grunebaum, Chaim M. Roifman   +9 more
doaj   +4 more sources

A trimeric structure for mammalian purine nucleoside phosphorylase [PDF]

FEBS Letters, 1973
Yvonne H. Edwards, Paul A. Edwards, D. A. HOPKINSON   +2 more
openalex   +5 more sources

[Purine nucleoside phosphorylase]. [PDF]

Biomeditsinskaya Khimiya, 2013
Purine nucleoside phosphorylase (PNP) is one of the most important enzymes of the purine metabolism, wich promotes the recycling of purine bases. Nowadays is the actual to search for effective inhibitors of this enzyme which is necessary for creation T-cell immunodeficient status of the organism in the organs and tissues transplantation, and ...
L. Pogosian, Zh I Akopian
semanticscholar   +3 more sources

Cloning and expression of recombinant purine nucleoside phosphorylase in the methylotrophic yeast Pichia pastoris

Journal of Advanced Biotechnology and Experimental Therapeutics, 2023
Purine Nucleoside Phosphorylase (PNP) is an enzyme involved in biosynthetic pathway of purine nucleosides. Purine nucleoside phosphorylase catalyzes the cleavage of the glycosidic bond of ribo- or deoxyribonucleosides to form the purine base and ...
Jaloliddin Abdurakhmanov, Sobirdjan Sasmakov, Shukhrat Khasanov, Oybek Ashirov, Farkhod Eshboev, Khayotjon Dolimov, Saodat Gaynazarova, Tulkin Sadullaev, Oygul Yarilkaganova, Khusan Nasriddinov, Asadali Baymirzaev, Artyom Makhnyov, Shakhnoz Azimova   +12 more
doaj   +1 more source

Investigating the Vital Role of the Identified Abietic Acid from Helianthus annuus L. Calathide Extract against Hyperuricemia via Human Embryonic Kidney 293T Cell Model

Molecules, 2023
To explore the anti-hyperuricemia components in sunflower (Helianthus annuus L.) calathide extract (SCE), we identified abietic acid (AA) via liquid chromatography–mass spectrometry and found an excellent inhibitor of xanthine oxidase (IC50 = 10.60 µM ...
Huining Dai, Xiao Xu, Wannan Li, Xueqi Fu, Weiwei Han, Guodong Li   +5 more
doaj   +1 more source

Some inhibitors of purine nucleoside phosphorylase [PDF]

Biomeditsinskaya Khimiya, 2011
Purine nucleoside phosphorylase (PNP) catalyzes reversible phosphorolysis of purine deoxy- and ribonucleosides with formation (d)Rib-1-P and corresponding bases. PNP plays a leading role in the cell metabolism of nucleosides and nucleotides, as well as in maintaining the immune status of an organism.
J. I. Akopian, L. H. Pogosian, Gazariants Mg, Mkrtchian Zs, Nersesova Ls   +4 more
openaire   +3 more sources

Synthesis of New 5′-Norcarbocyclic Aza/Deaza Purine Fleximers - Noncompetitive Inhibitors of E.coli Purine Nucleoside Phosphorylase

Frontiers in Chemistry, 2022
A new series of flexible 5′-norcarbocyclic aza/deaza-purine nucleoside analogs were synthesized from 6-oxybicyclo[3.1.0.]hex-2-ene and pyrazole-containing fleximer analogs of heterocyclic bases using the Trost procedure.
Anastasia Khandazhinskaya, Ilja Fateev, Irina Konstantinova, Roman Esipov, Konstantin Polyakov, Katherine Seley-Radtke, Sergey Kochetkov, Elena Matyugina   +7 more
doaj   +1 more source

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

International Journal of Neonatal Screening, 2021
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass ...
Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín   +13 more
doaj   +1 more source

PNP (Purine Nucleoside Phosphorylase) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018
The purine nucleoside phosphorylase gene (PNP) encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. PNP is ubiquitously expressed in mammalian cells and tissues. PNP mutations cause nucleoside phosphorylase deficiency which result in defective T cell mediated immunity but can also affect B cell immunity and antibody ...
Gurbanov, Rafig, Tunçer, Sinem
openaire   +3 more sources