• Application of crystallographic and modeling methods in the design of purine nucleoside phosphorylase inhibitors. (lu.se)
  • Uridine phosphorylase (UP) is a key enzyme in the pyrimidine salvage pathway that catalyses the reversible phosphorolysis of uridine to uracil and ribose 1-phosphate. (rcsb.org)
  • Purine nucleoside phosphorylase is a ubiquitously expressed enzyme of the purine salvage pathway as is adenosine deaminase, deficiency of which also causes immunodeficiency. (frontiersin.org)
  • The enzyme phosphorylates a specific serine residue in each of the subunits of the dimeric phosphorylase b. (expasy.org)
  • The enzyme differs from mammalian muscle phosphorylase a in that the equilibrium between phosphorylase a dimer and phosphorylase a tetramer is shifted in the direction of the dimer. (northwestern.edu)
  • Purine nucleoside phosphorylase (PNP) is the key enzyme of the purine salvage pathway. (biospot.eu)
  • The TYMP gene provides instructions for making an enzyme called thymidine phosphorylase. (medlineplus.gov)
  • First, a sucrose phosphorylase (SPase) mutant with higher enzyme activity was obtained by experimental screening . (bvsalud.org)
  • Purine nueoside phosphorylase (PNP) deficiency causes a form of severe combined immunodeficiency (SCID) characterized by profound T cell deficiency, failure to thrive (FTT), recurrent deep seeded infection, developmental delay, progressive neurological deterioration, and autoimmune complications. (medscape.com)
  • [ 2 , 3 ] One disorder is adenosine deaminase (ADA) deficiency, which is Online Mendelian Inheritance in Man (OMIM) subject number 102700, and the other is purine nucleoside phosphorylase (PNP) deficiency, which is OMIM subject number 164050. (medscape.com)
  • In purine nucleoside phosphorylase deficiency, similar changes occur, resulting in elevated deoxy-GTP (dGTP) levels. (medscape.com)
  • In a further description of the mechanism of T-cell depletion in purine nucleoside phosphorylase deficiency, Arpaia et al reported increased in vivo apoptosis of T cells and increased in vitro sensitivity to gamma irradiation in a murine model. (medscape.com)
  • [ 4 ] The immune deficiency in purine nucleoside phosphorylase deficiency may be the result of inhibited mitochondrial DNA repair due to the accumulation of dGTP in the mitochondria. (medscape.com)
  • Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic disease causes combined immunodeficiency and developmental delay, hypotonia, and spasticity. (frontiersin.org)
  • Purine nucleoside phosphorylase (PNP) deficiency (OMIM 613179) is a rare autosomal recessive metabolic disease leading to combined immunodeficiency and neurological abnormalities, which may include developmental delay, hypotonia, and spasticity ( 1 , 2 ). (frontiersin.org)
  • INTRODUCTION - Purine nucleoside phosphorylase (PNP) deficiency (MIM #613179) is a rare, autosomal recessive, inborn error of immunity (IEI) [ 1-3 ]. (medilib.ir)
  • Diagnosis of purine nucleoside phosphorylase deficiency is by DNA analysis. (msdmanuals.com)
  • Treatment of purine nucleoside phosphorylase deficiency is with bone marrow or stem cell transplantation. (msdmanuals.com)
  • In both adenosine deaminase and purine nucleoside phosphorylase deficiencies, thymocytes are thought to be selectively destroyed because of elevated levels of dATP and dGTP. (medscape.com)
  • These hexameric structures confirm the overall structural similarity of UP to E.coli purine nucleoside phosphorylase (PNP) whereby, in the presence of substrate, each displays a closed conformation resulting from a concerted movement that closes the active site cleft. (rcsb.org)
  • Previous studies have revealed that the adenosine 5′-monophosphate phosphorylase of Thermococcus kodakarensis ( Tk AMPpase) forms large soluble multimers with high thermal stability. (tu-berlin.de)
  • Modification of regulatory and catalytic properties of phosphorylase-b by irradiation and heat. (nebraska.edu)
  • In biochemistry, phosphorylases are enzymes that catalyze the addition of a phosphate group from an inorganic phosphate (phosphate+hydrogen) to an acceptor. (wikipedia.org)
  • Phosphorylases should not be confused with phosphatases, which remove phosphate groups. (wikipedia.org)
  • Other names in common use include UAR phosphorylase , and urate-ribonucleotide:phosphate D-ribosyltransferase . (wikipedia.org)
  • Unexpectedly, the reaction is stimulated by inorganic phosphate, and our data reveal that MbcT is a NAD+ phosphorylase. (figshare.com)
  • There are 4 moles of pyridoxal 5′-phosphate and 4 moles of orthophosphate bound to each 370,000 g of frog skeletal muscle phosphorylase a. (northwestern.edu)
  • For muscle phosphorylase but not liver phosphorylase, this is accompanied by a further dimerization to form a tetrameric phosphorylase. (expasy.org)
  • Polynucleotide phosphorylase (PNPase) is a processive exoribonuclease that contributes to messenger RNA turnover and quality control of ribosomal RNA precursors in many bacterial species. (port.ac.uk)
  • The expression of thymidine phosphorylase (TP), a potent chemotactic factor for endothelial cells, was studied in 60 adenocarcinomas of the gallbladder, by use of immunohistochemical techniques. (ox.ac.uk)
  • The structure of the transition state confirms that human thymidine phosphorylase proceeds through an S N 2-like transition state with bond orders of 0.50 to the thymine leaving group and 0.33 to the attacking oxygen nucleophile. (elsevierpure.com)
  • Birck, MR & Schramm, VL 2004, ' Nucleophilic Participation in the Transition State for Human Thymidine Phosphorylase ', Journal of the American Chemical Society , vol. 126, no. 8, pp. 2447-2453. (elsevierpure.com)
  • Arbutin Production through the Engineering of Sucrose Phosphorylase Combined with Engineered Cell Modification. (bvsalud.org)
  • When Do Symptoms of Purine nucleoside phosphorylase deficiency Begin? (nih.gov)
  • Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. (medlineplus.gov)
  • The shortage of immune system cells in people with purine nucleoside phosphorylase deficiency results in repeated and persistent infections typically beginning in infancy or early childhood. (medlineplus.gov)
  • The infections can be very serious or life-threatening, and without successful treatment to restore immune function, children with purine nucleoside phosphorylase deficiency usually do not survive past childhood. (medlineplus.gov)
  • Infants with purine nucleoside phosphorylase deficiency typically grow more slowly than healthy babies. (medlineplus.gov)
  • People with purine nucleoside phosphorylase deficiency are also at increased risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs. (medlineplus.gov)
  • Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. (medlineplus.gov)
  • The shortage of T cells and sometimes B cells results in the immune problems characteristic of purine nucleoside phosphorylase deficiency. (medlineplus.gov)
  • Damage to brain cells caused by buildup of dGTP is thought to underlie the neurological problems that occur in some people with purine nucleoside phosphorylase deficiency. (medlineplus.gov)
  • Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry. (medscape.com)
  • Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. (medscape.com)
  • Available at https://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency . (medscape.com)
  • Diagnosis of purine nucleoside phosphorylase deficiency is by DNA analysis. (msdmanuals.com)
  • Treatment of purine nucleoside phosphorylase deficiency is with bone marrow or stem cell transplantation. (msdmanuals.com)
  • Patients with high thymidine phosphorylase ( TP) gene expression (n = 62, dotted line) in tumour tissues exhibited significantly longer time to progression compared with patients with low expression (n = 63, solid line). (medscape.com)
  • TP Thymidine Phosphorylase. (medscape.com)
  • Patient and tumour characteristics subgrouped according to high or low thymidine phosphorylase expression. (medscape.com)
  • Prognoses in cases of uterine cervical squamous cell carcinoma treated with radiotherapy were investigated in association with immunohistochemical expression of an angiogenic factor, thymidine phosphorylase (TP). (bmj.com)
  • The angiogenic factor thymidine phosphorylase (TP) is highly expressed in human monocytes and macrophages, and its expression has been linked to the pathology and progression of solid tumors, rheumatoid arthritis, and gastric ulcers. (elsevierpure.com)
  • Zhu, GH & Schwartz, EL 2003, ' Expression of the Angiogenic Factor Thymidine Phosphorylase in THP-1 Monocytes: Induction by Autocrine Tumor Necrosis Factor-α and Inhibition by Aspirin ', Molecular Pharmacology , vol. 64, no. 5, pp. 1251-1258. (elsevierpure.com)
  • Thymidine phosphorylase (TP) anabolises formation of pyrimidine nucleosides available for DNA synthesis, whereas dihydropyrimidine dehydrogenase (DPD) catabolises the degradation of pyrimidine bases, thereby reducing levels of uracil and thymine available for DNA synthesis. (elsevierpure.com)
  • Focal expression of thymidine phosphorylase associates with CD31 positive lymphocytic aggregation and local neo-angiogenesis in non-small cell lung cancer. (ox.ac.uk)
  • In more general terms, phosphorylases are enzymes that catalyze the addition of a phosphate group from an inorganic phosphate (phosphate + hydrogen) to an acceptor, not to be confused with a phosphatase (a hydrolase) or a kinase (a phosphotransferase). (wikipedia.org)
  • Phosphorylase Kinase (PhK) is an essential regulatory enzyme in the glycogenolysis cascade. (ku.edu)
  • Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. (nih.gov)
  • Phosphorylase kinase is a 1.3 MDa hexadecameric holoenzyme. (phosphorylase-signal.com)
  • A class of CAZymes, known as glycoside phosphorylases (GPs) catalyze the reversible phosphorolysis of glycosidic bonds, releasing sugar 1-phosphates and have considerable potential as catalysts for the assembly of useful carbohydrates for products ranging from functional foods and prebiotics to novel materials. (ubc.ca)
  • Biocatalytic nucleoside (trans-)glycosylations catalyzed by nucleoside phosphorylases have graduated to a practical and convenient approach to the preparation of modified nucleosides, which are important pharmaceuticals for the treatment of various cancers and viral infections. (chemrxiv.org)
  • Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients. (medscape.com)
  • Previous studies have revealed that the adenosine 5′-monophosphate phosphorylase of Thermococcus kodakarensis ( Tk AMPpase) forms large soluble multimers with high thermal stability. (tu-berlin.de)
  • A mixed type inhibitor of muscle glycogen phosphorylase (K i = 930 nM). (emdmillipore.com)
  • The fourth-generation immucillin derivative (DI4G), a potent inhibitor of purine nucleoside phosphorylase, has been proposed as a promising agent in the treatment of diseases associated with T cell activation. (fiocruz.br)
  • Evidence from purine nucleoside phosphorylase-deficient mice. (medscape.com)
  • It is rare for this deletion to occur in primary prostate tumors, yet approximately 10% express decreased levels of methylthioadenosine phosphorylase (MTAP) mRNA. (nih.gov)
  • Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans. (nih.gov)
  • Glycogen phosphorylase (GP) is a promising molecular target for the treatment of Type 2 diabetes. (eurekaselect.com)
  • Available at https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=760 . (medscape.com)
  • Our multifaceted analysis further describes the kinetic implications of this in situ reactant esterification for a model phosphorylase. (chemrxiv.org)