Adenine Phosphoribosyltransferase: An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.Pentosyltransferases: Enzymes of the transferase class that catalyze the transfer of a pentose group from one compound to another.Hypoxanthine Phosphoribosyltransferase: An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.Adenine: A purine base and a fundamental unit of ADENINE NUCLEOTIDES.Hypoxanthines: Purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism.Phosphoribosyl Pyrophosphate: The key substance in the biosynthesis of histidine, tryptophan, and purine and pyrimidine nucleotides.Orotate Phosphoribosyltransferase: The enzyme catalyzing the formation of orotidine-5'-phosphoric acid (orotidylic acid) from orotic acid and 5-phosphoribosyl-1-pyrophosphate in the course of pyrimidine nucleotide biosynthesis. EC 2.4.2.10.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Nicotinamide Phosphoribosyltransferase: An enzyme that catalyzes the formation of nicotinamide mononucleotide (NMN) from nicotinamide and 5-phosphoribosyl-1-pyrophosphate, the rate-limiting step in the biosynthesis of the NAD coenzyme. It is also known as a growth factor for early B-LYMPHOCYTES, or an ADIPOKINE with insulin-mimetic effects (visfatin).Azaserine: Antibiotic substance produced by various Streptomyces species. It is an inhibitor of enzymatic activities that involve glutamine and is used as an antineoplastic and immunosuppressive agent.Purines: A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism.Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)PentosephosphatesATP Phosphoribosyltransferase: An enzyme that catalyzes the first step of the pathway for histidine biosynthesis in Salmonella typhimurium. ATP reacts reversibly with 5-phosphoribosyl-1-pyrophosphate to yield N-1-(5'-phosphoribosyl)-ATP and pyrophosphate. EC 2.4.2.17.Purine-Nucleoside Phosphorylase: An enzyme that catalyzes the reaction between a purine nucleoside and orthophosphate to form a free purine plus ribose-5-phosphate. EC 2.4.2.1.Carcinoma, Ehrlich Tumor: A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.Adenosine Monophosphate: Adenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position.Anthranilate Phosphoribosyltransferase: An enzyme that catalyzes the formation of N-5'-phosphoribosylanthranilic acid from anthranilate and phosphoribosylpyrophosphate, the first step in tryptophan synthesis in E. coli. It exists in a complex with ANTHRANILATE SYNTHASE in bacteria. EC 2.4.2.18.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Nucleotides: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Heterozygote Detection: Identification of genetic carriers for a given trait.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Azaguanine: One of the early purine analogs showing antineoplastic activity. It functions as an antimetabolite and is easily incorporated into ribonucleic acids.Purine-Pyrimidine Metabolism, Inborn ErrorsCricetulus: A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Glucosyltransferases: Enzymes that catalyze the transfer of glucose from a nucleoside diphosphate glucose to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Kinetics: The rate dynamics in chemical or physical systems.Adenine NucleotidesDNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).CHO Cells: CELL LINE derived from the ovary of the Chinese hamster, Cricetulus griseus (CRICETULUS). The species is a favorite for cytogenetic studies because of its small chromosome number. The cell line has provided model systems for the study of genetic alterations in cultured mammalian cells.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Acrylamides: Colorless, odorless crystals that are used extensively in research laboratories for the preparation of polyacrylamide gels for electrophoresis and in organic synthesis, and polymerization. Some of its polymers are used in sewage and wastewater treatment, permanent press fabrics, and as soil conditioning agents.Nicotinamide Mononucleotide: 3-Carbamoyl-1-beta-D-ribofuranosyl pyridinium hydroxide-5'phosphate, inner salt. A nucleotide in which the nitrogenous base, nicotinamide, is in beta-N-glycosidic linkage with the C-1 position of D-ribose. Synonyms: Nicotinamide Ribonucleotide; NMN.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Hypoxanthine: A purine and a reaction intermediate in the metabolism of adenosine and in the formation of nucleic acids by the salvage pathway.Electronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.UDPglucose-Hexose-1-Phosphate Uridylyltransferase: An enzyme that catalyzes the transfer of UMP from UDPglucose to galactose 1-phosphate, forming UDPgalactose and glucose 1-phosphate. Deficiency in this enzyme is the major cause of GALACTOSEMIA. EC 2.7.7.12.Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)UTP-Hexose-1-Phosphate Uridylyltransferase: An enzyme that catalyzes the synthesis of UDPgalactose from UTP and galactose-1-phosphate. It is present in low levels in fetal and infant liver, but increases with age, thereby enabling galactosemic infants who survive to develop the capacity to metabolize galactose. EC 2.7.7.10.Lithotripsy: The destruction of a calculus of the kidney, ureter, bladder, or gallbladder by physical forces, including crushing with a lithotriptor through a catheter. Focused percutaneous ultrasound and focused hydraulic shock waves may be used without surgery. Lithotripsy does not include the dissolving of stones by acids or litholysis. Lithotripsy by laser is LITHOTRIPSY, LASER.Kidney Calculi: Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.Ureteral Calculi: Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic.High-Energy Shock Waves: High-amplitude compression waves, across which density, pressure, and particle velocity change drastically. The mechanical force from these shock waves can be used for mechanically disrupting tissues and deposits.Calculi: An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones.Nephrolithiasis: Formation of stones in the KIDNEY.Ureteroscopy: Endoscopic examination, therapy or surgery of the ureter.

Developmental changes in purine phosphoribosyltransferases in human and rat tissues. (1/221)

1. The hypoxanthine/guanine and adenine phosphoribosyltransferase activities in a wide variety of human tissues were studied during their growth and development from foetal life onward. A wide range of activities develop after birth, with especially high values in the central nervous system and testes. 2. Postnatal development of hypoxanthine/guanine phosphoribosyltransferase was also defined in the rat. Although there were increases in the central nervous system and testes, there was also a rise in activity in the liver, which was less marked in man. 3. A sensitive radiochemical assay method, using dTTP to inhibit 5'-nucleotidase activity, suitable for tissue extracts, was developed. 4. No definite evidence of the existence of tissue-specific isoenzymes of hypoxanthine/guanine or adenine phosphoribosyltransferase was found. Hypoxanthine/guanine phosphoribosyltransferase in testes, however, had a significantly different thermal-denaturation rate constant. 5. The findings are discussed in an attempt to relate activity of hypoxanthine/guanine phosphoribosyltransferase to biological function. Growth as well as some developmental changes appear to be related to increase in the activity of this enzyme.  (+info)

A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers. (2/221)

To determine the types of mutations induced by oxidative damage, a kidney cell line with a heterozygous deficiency for the autosomal Aprt (adenine phosphoribosyltransferase) gene was tested for its mutagenic response to hydrogen peroxide. Aprt-deficient cells were selected and scored for loss of heterozygosity (LOH) for 11 microsatellite loci on mouse chromosome 8. On the basis of the LOH analysis, spontaneous mutants (n = 38) were distributed into four classes: apparent point mutation, mitotic recombination, chromosome loss, and large interstitial deletion. However, 9 of 20 (45%) hydrogen peroxide-induced mutants exhibited a novel class of mutations characterized by "discontinuous LOH" for one or more of the microsatellite loci. Interestingly, mutations resembling discontinuous LOH are commonly observed in a wide variety of human cancers. Our data suggest that discontinuous LOH is a signature mutational pattern for oxidative damage and further suggest that such genetic damage is widespread in cancer.  (+info)

Effect of interferon-gamma on purine catabolic and salvage enzyme activities in rats. (3/221)

To determine whether interferon-gamma affects rat purine catabolic and salvage enzyme activities, rats were injected with interferon-gamma (600000 U/kg, i.p.) and, similarly to a vehicle-injected control group, killed before or after injection at 6, 12, and 24 h. Organ homogenates were prepared and enzymatic reactions with substrates were carried out, after which the products were measured either chromatographically or spectrophotometrically. Western and Northern blotting also were performed. In contrast to the vehicle-injected rats, interferon-gamma-injected rats showed a significant rise in xanthine oxidoreductase activity in the liver, while enzyme activity was unchanged in the spleen, kidney, and lung. Western analysis of hepatic xanthine oxidoreductase showed an increased concentration of this protein 12 and 24 h after interferon-gamma injection. Northern analysis disclosed an enhanced mRNA expression coding for this enzyme, peaking 12 h after injection. Contrastingly, the activities of adenosine deaminase, purine nucleoside phosphorylase, hypoxanthine guanine phosphoribosyltransferase, and adenine phosphoribosyltransferase were not affected by interferon-gamma in any organ tested. While interferon-gamma causes an increased hepatic biosynthesis of xanthine oxidoreductase, the physiologic role of this enzyme induction remains undetermined.  (+info)

Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani. (4/221)

The enzyme adenine phosphoribosyltransferase (APRT) functions to salvage adenine by converting it to adenosine-5-monophosphate (AMP). APRT deficiency in humans is a well characterized inborn error of metabolism, and APRT may contribute to the indispensable nutritional role of purine salvage in protozoan parasites, all of which lack de novo purine biosynthesis. We determined crystal structures for APRT from Leishmania donovani in complex with the substrate adenine, the product AMP, and sulfate and citrate ions that appear to mimic the binding of phosphate moieties. Overall, these structures are very similar to each other, although the adenine and AMP complexes show different patterns of hydrogen-bonding to the base, and the active site pocket opens slightly to accommodate the larger AMP ligand. Whereas AMP adopts a single conformation, adenine binds in two mutually exclusive orientations: one orientation providing adenine-specific hydrogen bonds and the other apparently positioning adenine for the enzymatic reaction. The core of APRT is similar to that of other phosphoribosyltransferases, although the adenine-binding domain is quite different. A C-terminal extension, unique to Leishmania APRTs, extends an extensive dimer interface by wrapping around the partner molecule. The active site involves residues from both subunits of the dimer, indicating that dimerization is essential for catalysis.  (+info)

Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice. (5/221)

Mice heterozygous at Aprt (adenine phosphoribosyltransferase) were used as a model to study in vivo loss of heterozygosity (LOH) in normal fibroblasts. Somatic cell variants that exhibited functional loss of the wild-type Aprt in vivo were recovered as APRT-deficient cell colonies after culturing in selection medium containing 2, 6-diaminopurine (DAP), an adenine analog that is toxic only to cells with APRT enzyme activity. DAP-resistant (DAP(r)) fibroblast variants were recovered at a median frequency of 12 x 10(-5) from individual ears from progeny of crosses between mouse strains 129/Sv and C3H/HeJ. The frequency of DAP(r) variants varied greatly among individual ears, suggesting that they preexisted in vivo and arose at various times during development. Polymorphic molecular markers and a cytological marker on the centromere of chromosome 8 made it possible to discriminate between each of six possible mechanistic pathways of LOH. The majority (about 80%) of the DAP(r) variants were a consequence of mitotic recombination. The prevalence of mitotic recombination in regions proximal to Aprt did not correlate with meiotic map distances. In particular, there was a higher than expected frequency of crossovers within the interval 59 cM to 67 cM. The high spontaneous frequency of Aprt LOH, mediated primarily by mitotic recombination, is fully consistent with our previous results with human peripheral T cells from individuals known to be heterozygous at APRT. Thus, this Aprt heterozygote mouse is a valid model for studying somatic mutagenesis and mitotic recombination in vivo.  (+info)

Enhanced amsacrine-induced mutagenesis in plateau-phase Chinese hamster ovary cells, with targeting of +1 frameshifts to free 3' ends of topoisomerase II cleavable complexes. (6/221)

Previous work showed that the DNA double-strand cleaving agents bleomycin and neocarzinostatin were more mutagenic in plateau-phase than in log-phase cells. To determine whether topoisomerase II poisons that produce double-strand breaks by trapping of cleavable complexes would, likewise, induce mutations specific to plateau-phase cells, aprt mutations induced by amsacrine in both log-phase and plateau-phase CHO cells were analyzed. The maximum aprt mutant frequencies obtained were 7 x 10(-6) after treatment with 0.02 microM amsacrine in log phase and 27 x 10(-6) after treatment with 1 microM amsacrine in plateau phase, compared with a spontaneous frequency of < 1 x 10(-6). Base substitutions dominated the spectrum of mutations in log-phase cells, but were much less prevalent in plateau-phase cells. Both spectra also included small deletions, insertions and duplications, as well as few large-scale deletions or rearrangements. About 5% of the log-phase mutants and 16% of the plateau-phase mutants were +1 frameshifts, and all but one of these were targeted to potential free 3' termini of cleavable complexes, as determined by mapping of cleavage sites in DNA treated with topoisomerase II plus amsacrine in vitro. Thus, these insertions may arise from templated extension of the exposed 3' terminus by a DNA polymerase, followed by resealing of the strand, as shown previously for acridine-induced frameshifts in T4 phage.  (+info)

Solid tissues removed from ATM homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations. (7/221)

The presence of increased frequencies of blood-derived and solid tumors in ataxia-telangiectasia (A-T) patients, coupled with a role for the ATM (A-T mutation) protein in detecting specific forms of DNA damage, has led to the assumption of a mutator phenotype in A TM-deficient cells. Supporting this assumption are observations of increased rates of chromosomal aberrations and intrachromosomal homologous recombinational events in the cells of A-T patients. We have bred mice with knockout mutations for the selectable Aprt (adenine phosphoribosyltransferase) locus and the Atm locus to examine the frequency of second-step autosomal mutations in Atm-deficient cells. Two solid tissues were examined: (a) the ear, which yields predominately mesenchymal cells; and (b) the kidney, which yields predominately epithelial cells. We report here the lack of a mutator phenotype for inactivating autosomal mutations in solid tissues of the Atm-deficient mice.  (+info)

Localized Derepression on the Human Inactive X Chromosone in Mouse-Human Cell Hybrids. (8/221)

Evidence for derepression of the gene for hypoxanthine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) on the human inactive X chromosome was obtained in hybrids of mouse and human cells. The mouse cells lacked HPRT and were also deficient in adenine phosphoribosyltransferase (APRT; AMP: pyrophosphate phosphoribosyltransferase; EC2.4.2.7). The human female fibroblasts were HPRT-deficient as a consequence of a mutation on the active X but contained a normal HPRT gene on the inactive X. The two human X chromosomes were further distinguished by differences in morphology: the inactive X was morphologically normal while the active X included most of the long arm of autosome no. 1 translocated to the distal end of the X long arm. Forty-one hybrid clones were first isolated by selection for the presence of APRT; when these clones were selected for HPRT, six of them yielded derivatives having human HPRT with incidences of about 1 in 10-6 APRT-selected hybrid cells. The HPRT-positive derivatives contained a normal-appearing X chromosome indistinguishable from the inactive X of the parental human fibroblasts. The active X with the translocation was not found in any of the HPRT-positive hybrid cells. Human phosphoglycerokinase (ATP:3-phospho-D-glycerate 1-phosphotransferase. EC 2.7.2.3) and glucose-6-phosphate dehydrogenase (D-glucose 6-phosphate: NADP 1-oxidoreductase, EC 1.1.1.49), which are specified by X-chromosomal loci, were not detected in the hybrids expressing HPRT even though they contained an apparently intact X chromosome. The observations are most simply explained by the infrequent, stable derepression of inactive X chromosome segments that include the HPRT locus but not the phosphoglycerokinase and glucose-6-phosphate dehydrogenase loci.  (+info)

TY - JOUR. T1 - Model involving gene inactivation in the generation of autosomal recessive mutants in mammalian cells in culture. AU - Simon, A. E.. AU - Taylor, M. W.. AU - Bradley, W. E C. AU - Thompson, L. H.. PY - 1982. Y1 - 1982. N2 - We present evidence for a two-step model for expression of the recessive phenotype at the diploid adenine phosphoribosyl transferase (aprt) locus in Chinese hamster ovary cells. This model proposes a high-frequency event leading to allelic inactivation and a low-frequency event leading to a structural alteration of the APRT protein. Either event can occur first, resulting in two types of heterozygous cells. The proposed model is based on analysis of Chinese hamster ovary presumptive aprt heterozygotes and APRT- mutants, derived by two different laboratories. The major class of heterozygotes (class 1) had approximately 50% parental APRT activity, 50% immunologically precipitable APRT protein, and only wild-type enzyme as based on two-dimensional gel ...
Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269,PubMed:11243733, ECO:0000269,PubMed:1353080, ECO:0000269,PubMed:15571218, ECO:0000269,PubMed:1746557, ECO:0000269,PubMed:21635362, ECO:0000269,PubMed:3343350, ECO:0000269,PubMed:3680503, ECO:0000269,PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Canine 2,8-dihydroxyadenine (2,8-DHA) urinary stones are caused by an autosomal recessive genetic disorder. The disorder is a result of a mutation in the adenine phosphoribosyltransferase (APRT) gene, which encodes an enzyme that is critical in the metabolism of dietary purines. A deficiency in APRT results in excessive 2,8-DHA in the urine. This increases the risk for formation of bladder or kidney stones and can cause significant kidney disease. Who gets it?2,8-DHA is among the most rare types of canine urinary stones. It has been reported in dogs with ancient breed origins, such as the Siberian Husky, Tamaskan, and Native American Indian Dog (which is derived from the Alaskan Malamute, Siberian Husky, German Shepherd Dog, and Chinook). We have also identified this stone type in wolves.What are the clinical signs? Canine 2,8-DHA stones can form in the kidneys or bladder. This causes irritation that may manifest as straining to urinate, frequent urination, urgency with urination, blood in the urine, or
We have investigated whether the presence of a DNA repair enzyme, 06-methylguanine-DNA-methyltransferase (MGMT), affects the nature of spontaneous mutations in a mammalian cell line. We compared spontaneous mutations in the adenine phosphoribosyl transferase gene of a Chinese hamster ovary (CHO) cell line that expressed 14,000 MGMT molecules/cell with those in the parental CHO cells lacking this DNA repair activity. The mutation rate/cell/generation of the two CHO cell lines did not differ significantly. However, DNA sequence analysis of spontaneous mutations in the MGMT-proficient CHO cell line revealed a complex picture. No significant difference from the parental CHO cells was found in the number or type of deletions, frame-shifts, multiple substitutions, or insertions. The frequency of G:C to T:A transversions was elevated in MGMT-proficient CHO cells. Expression of the enzyme considerably reduced G:C to A:T transitions (25% versus 8.3%). This latter result is the first evidence that this ...
0248] The term "analyte," as used herein, is a broad term and is used in its ordinary sense, including, without limitation, to refer to a substance or chemical constituent in a biological fluid (for example, blood, interstitial fluid, cerebral spinal fluid, lymph fluid or urine) that can be analyzed. Analytes may include naturally occurring substances, artificial substances, metabolites, and/or reaction products. In some embodiments, the analyte for measurement by the sensor heads, devices, and methods is analyte. However, other analytes are contemplated as well, including but not limited to acarboxyprothrombin; acylcarnitine; adenine phosphoribosyl transferase; adenosine deaminase; albumin; alpha-fetoprotein; amino acid profiles (arginine (Krebs cycle), histidine/urocanic acid, homocysteine, phenylalanine/tyrosine, tryptophan); andrenostenedione; antipyrine; arabinitol enantiomers; arginase; benzoylecgonine (cocaine); biotinidase; biopterin; c-reactive protein; carnitine; carnosinase; CD4; ...
APRT - APRT (Myc-DDK-tagged)-Human adenine phosphoribosyltransferase (APRT), transcript variant 1 available for purchase from OriGene - Your Gene Company.
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Purine phosphoribosyltransferases, purine PRTs, are essential enzymes in the purine salvage pathway of living organisms. They are involved in the formation of C-N glycosidic bonds in purine nucleosides-50-monophosphate (NMPs) through the transfer of the 5-phosphoribosyl group from 5-phospho-a-D-ribosyl-1-pyrophosphate (PRPP) to purine nucleobases in the presence of Mg2þ. Herein, we report a simple and thermostable process for the one-pot, one-step synthesis of some purine NMPs using xanthine phosphoribosyltransferase, XPRT or adenine phosphoribosyltransferase, APRT2, from Thermus thermophilus HB8. In this sense, the cloning, expression and purification of TtXPRT and TtAPRT2 is described for the first time. Both genes, xprt and aprt2 were expressed as his-tagged enzymes in E. coli BL21(DE3) and purified by a heat-shock treatment, followed by Ni-affinity chromatography and a final, polishing gel-filtration chromatography. Biochemical characterization revealed TtXPRT as a tetramer and TtAPRT2 as a ...
The RT² qPCR Primer Assay is the most reliable SYBR® Green-based quantitative real-time PCR assay for gene expression analysis. Our experimentally verified design algorithm yields gene-specific qPCR assays characterized by uniform and high PCR efficiencies and standardized amplification conditions. Every RT² Primer Assay is subjected to rigorous experimental verification. Single product amplification of the correct size and high PCR efficiency are guaranteed when using the appropriate RT² qPCR Master Mixes. The uniform PCR amplification efficiencies and PCR conditions of the RT² qPCR Primer Assays provide an accurate and scalable solution for multiple gene expression analyses. Browse Primer Assays By Gene ...
2734 DNA CpG island hypermethylation is a very common alteration in cancer, the genesis of which is still unrevealed. It has been proposed that, with aging and carcinogenesis, DNA methylation spreads from normally methylated regions (methylation centers) into gene promoters, resulting in silencing. Candidate sequences to act as methylation centers are the widely spread Alu repeats. In order to test this hypothesis and establish models of in-vitro methylation, we cloned fragments of the murine promoters cdkn2d (-634 to +432) and p19ARF (-1088 to +419) into the reporter vector pGL3-basic which contains the Luciferase gene (wild-type constructs) and added B1 repetitive elements (murine Alu) in tandem 2, 4 and 6 times upstream to these promoters, resulting in 7 different transgenic cassettes that were transiently and/or stably integrated into the fibroblast cell line NIH3T3. No or little decrease in luciferase activity was detected for all wild-type constructs at 48 and 72 hours after transient ...
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CSHL Press publishes monographs, technical manuals, handbooks, review volumes, conference proceedings, scholarly journals and videotapes. These examine important topics in molecular biology, genetics, development, virology, neurobiology, immunology and cancer biology. Manuscripts for books and for journal publication are invited from scientists world wide.
6-Fluoro-3-hydroxy-2-pyrazinecarboxamide (T-705) is a novel antiviral compound with broad activity against influenza virus and diverse RNA viruses. Its active metabolite, T-705-ribose-5′-triphosphate (T-705-RTP), is recognized by influenza virus RNA polymerase as a substrate competing with GTP, giving inhibition of viral RNA synthesis and lethal virus mutagenesis. Which enzymes perform the activation of T-705 is unknown. We here demonstrate that human hypoxanthine guanine phosphoribosyltransferase (HGPRT) converts T-705 into its ribose-5′-monophosphate (RMP) prior to formation of T-705-RTP. The anti-influenza virus activity of T-705 and T-1105 (3-hydroxy-2-pyrazinamide; the analogue lacking the 6-fluoro atom) was lost in HGPRT-deficient MDCK cells. This HGPRT dependency was confirmed in human HEK293T cells undergoing HGPRT-specific gene knockdown followed by influenza virus ribonucleoprotein reconstitution. Knockdown for adenine phosphoribosyltransferase (APRT) or nicotinamide ...
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but imp
Type II Toxoplasma gondii KU80 knockouts (Δku80) deficient in nonhomologous end joining were developed to delete the dominant pathway mediating random integration of targeting episomes. Gene targeting frequency in the type II Δku80 Δhxgprt strain measured at the orotate (OPRT) and the uracil (UPRT) phosphoribosyltransferase loci was highly efficient. To assess the potential of the type II Δku80 Δhxgprt strain to examine gene function affecting cyst biology and latent stages of infection, we targeted the deletion of four parasite antigen genes (GRA4, GRA6, ROP7, and tgd057) that encode characterized CD8(+) T cell epitopes that elicit corresponding antigen-specific CD8(+) T cell populations associated with control of infection ...
MetabolismPurines, pyrimidines, nucleosides, and nucleotidesSalvage of nucleosides and nucleotideshypoxanthine phosphoribosyltransferase (TIGR01203; EC 2.4.2.8; HMM-score: 22.2) ...
MetabolismPurines, pyrimidines, nucleosides, and nucleotidesSalvage of nucleosides and nucleotideshypoxanthine phosphoribosyltransferase (TIGR01203; EC 2.4.2.8; HMM-score: 44.3) ...
now, downstream data, issues, survivors, sites, data, and univariate representative RNAs could require purified via the ebook of outcomes. The ebook to enhance acid promoters with production is that the ECD-mTLR2 cell is full to introduce possible, there misconfigured to subscribe. respectively, ebook Investitionen, has acidic certain attB, and the network phosphoribosyltransferase is to be observed for a specifically new volume.
The genetic organization of interval 62B3-4 to 62D3-4 on the Drosophila third chromosome was investigated. The region (designated DRE) includes four known loci: Roughened (R; 3-1.4), defined by a dominant mutation disrupting eye morphology; the nonvital locus Aprt, structural gene for adenine phosphoribosyltransferase; Dras3, a homolog of the vertebrate ras oncogene; and 1(3)ecdysoneless (1(3)ecd), a gene that has been implicated in the regulation of larval molting hormone (ecdysteroid) synthesis. Overlapping chromosomal deletions of the region were generated by gamma-ray-induced reversion of the R mutation. Recessive lethal mutations were isolated based upon failure to complement the recessive lethality of Df(3L)RR2, a deletion of the DRE region that removes 16-18 polytene chromosome bands. A total of 117 mutations were isolated following ethyl methanesulfonate and gamma-ray mutagenesis. These and two additional define 13 lethal complementation groups. Mutations at two loci were recovered at ...
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The measurement of the activity of the X-linked enzyme HPRT has been widely used as an indicator of X-chromosome activity during preimplantation development in the mouse. More recently, the concomitant measurement of the activity of the autosomally-encoded enzyme APRT has been used in an attempt to decrease the variability inherent in the measurement of enzyme activity from minute samples such as preimplantation embryos. In this study the use of the HPRT-deficient mouse mutant, Hprtb-m3, allowed the unequivocal identification of the parental origin of HPRT activity measured in embryos derived from crosses between wild-type mice, and mice which were homozygous or hemizygous for the Hprtb-m3 allele. Results were similar to those of a previous study, where oocyte-encoded HPRT activity accounted for about 10% of total HPRT activity at 76 hours post human chorionic gonadotrophin injection and the paternally-derived Hprt allele was shown to be transcriptionally active by the late 2-cell stage. In ...
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The favorable response to therapy, after the recognition of HPRT deficiency as the basis for the urolithiasis in 2 male siblings, contrasts sharply with the unfavorable outcome in their 2 uncles already in kidney failure. This underlines the importance of early diagnosis and therapy for the prognosis of partial HPRT deficiency. Lack of awareness of this disorder in many parts of mainland Europe is attributable to the fact that inherited defects of purine metabolism are relatively new diseases, the majority being discovered during the last 25 years. HPRT deficiency seems to be one of the most common enzyme defects of nucleotide metabolism among the 27 now described. This lack of awareness explains why it took so long for the diagnosis to be made in the uncles. Moreover, the elder, now 65, would have been 32 at the time the partial defect was first described by Kelly et al5 in 1967, when presumably renal function would already have been compromised. The development of renal disease in his nephew, ...
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Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation ...
Embryos from XO female mice begin development with half the activity levels of an enzyme (HPRT) coded for by a gene on the X chromosome, compared with embryos from XX females. Groups of unfertilized eggs and individual embryos at the 8-cell, morula and blastocyst stages were assayed for HPRT activit …
Edema & Jaundice & Sloping Shoulders Symptom Checker: Possible causes include Orotate Phosphoribosyltransferase Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
A fairly deep split in phylogenetic and UPGMA trees separates this mostly prokaryotic set of uracil phosphoribosyltransferases from a mostly eukaryotic set that includes uracil phosphoribosyltransferase, uridine kinases, and other, uncharacterized proteins ...
Obsolete - 5HHU: Plasmodium vivax hypoxanthine-guanine phosphoribosyltransferase in complex with [3R,4R]-4-guanin-9-yl-3-((S)-2-hydroxy-2-phosphonoethyl)oxy-1-N-(phosphonopropionyl)pyrrolidine
Effect of regional DNA methylation on gene expression.: The effect of DNA methylation on the transcriptional activity of the hamster adenine phosphoribosyltrans
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Looking for the definition of HGPRT? Find out what is the full meaning of HGPRT on Abbreviations.com! Hypoxanthin guanine phosphoribosyl tranferase is one option -- get in to view more @ The Webs largest and most authoritative acronyms and abbreviations resource.
... is caused by hyperuricemia (high serum levels of uric acid) due to a defective gene called the hypoxanthine guanine phosphoribosyltransferase. Patients with this syndrome are prone to have uric acid kidney stones and mental retardation. It is inherited as an X-linked recessive condition ...
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The auto-aggressive behavior that characterizes the Lesch-Nyhan syndrome1 is unique among behavioral abnormalities in that the genetic and molecular basis of the disorder has been firmly established.2...
Lesch-Nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. Purines are protein molecules that are important for the metabolism of RNA and DNA, which make up our genetic codes. Lesch-Nyhan syndrome is characterized by uric acid build-up, neurologic disability, and behavioral problems, including self-injury. It is a rare condition.
TY - JOUR. T1 - Combined preconditioning and in vivo chemoselection with 6-thioguanine alone achieves highly efficient reconstitution of normal hematopoiesis with HPRT-deficient bone marrow. AU - Hacke, Katrin. AU - Szakmary, Akos. AU - Cuddihy, Andrew R.. AU - Rozengurt, Nora. AU - Lemp, Nathan A.. AU - Aubrecht, Jiri. AU - Lawson, Gregory W.. AU - Rao, Nagesh P.. AU - Crooks, Gay M.. AU - Schiestl, Robert H.. AU - Kasahara, Noriyuki. PY - 2012/1. Y1 - 2012/1. N2 - Purine analogs such as 6-thioguanine (6TG) cause myelotoxicity upon conversion into nucleotides by hypoxanthine-guanine phosphoribosyltransferase (HPRT). Here we have developed a novel and highly efficient strategy employing 6TG as a single agent for both conditioning and in vivo chemoselection of HPRT-deficient hematopoietic stem cells. The dose-response and time course of 6TG myelotoxicity were first compared in HPRT wild-type mice and HPRT-deficient transgenic mice. Dosage and schedule parameters were optimized to employ 6TG for ...
This assay is used to detect mutations of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in Chinese hamster ovary (CHO) or lung (V79) fibroblasts.
The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region ...
The use of enzymes as biocatalysts applied to synthesis of modified nucleoside-5-monophosphates (NMPs) is an interesting alternative to traditional multistep chemical methods which offers several advantages, such as stereo, regio and enantioselectivity, simple downstream processing, and mild reaction conditions. Herein we report the recombinant expression, production and purification of uracil phosphoribosyltransferase from Thermus themophilus HB8 (TtUPRT). The structure of TtUPRT has been determined by protein crystallography, and its substrate specificity and biochemical characteristics have been analysed, providing new structural insights into the substrate-binding mode. Biochemical characterization of the recombinant protein indicates that the enzyme is a homotetramer, with activity and stability across a broad range of temperatures (50-80 °C), pH (5.5-9) and ionic strength (0-500 mM NaCl). Surprisingly, TtUPRT is able to recognize several 5 and 6-substituted pyrimidines as substrates. ...
Recombinant Nicotinamide phosphoribosyltransferase (NAMPT) Protein (His tag). Spezies: Maus. Quelle: Escherichia coli (E. coli). Jetzt Produkt ABIN1344090 bestellen.
... , Authors: Vassiliki Koumaki, Maria Dalamaga. Published in: Atlas Genet Cytogenet Oncol Haematol.
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Myelin Basic Protein;Encephalomyelitis, Autoimmune, Experimental;Complementarity Determining Regions;Multiple Sclerosis;Hypoxanthine Phosphoribosyltransferase;T-Lymphocytes;Peptide Fragments;Receptors, Antigen, T-Cell, alpha-beta;Receptors ...
Myelin Basic Protein;Encephalomyelitis, Autoimmune, Experimental;Complementarity Determining Regions;Multiple Sclerosis;Hypoxanthine Phosphoribosyltransferase;T-Lymphocytes;Peptide Fragments;Receptors, Antigen, T-Cell, alpha-beta;Receptors ...
Toxoplasma gondii is an intracellular parasite of humans and other mammals which can differentiate between an active and a dormant form. Our primary interest was to modulate gene expression in T. gondii in order to investigate a putative gene function. The capability of double-stranded RNA to down-regulate gene expression has been demonstrated in various organisms but has yet to be demonstrated in intracellular organisms such as T. gondii. Therefore, the effect of in vitro synthesized double-stranded RNA was first investigated for the down-regulation effect of the homologous gene in T. gondii. Three non-essential marker genes which encode the green fluorescent protein, uracil phosphoribosyl transferase and hypoxanthine-xanthine-guanine phosphoribosyltransferase were used in the study. Double-stranded RNA was efficiently electroporated into the parasites and specifically lowered the expression of the homologous marker gene. The down-regulation effects can be observed for three successive propagations
The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011 ...
Visfatin antibody [N1N3] (nicotinamide phosphoribosyltransferase) for IHC-P, WB. Anti-Visfatin pAb (GTX117444) is tested in Human samples. 100% Ab-Assurance.
... adenine phosphoribosyltransferase. It is also used to treat kidney stones caused by deficient activity of adenine ... hypoxanthine-guanine phosphoribosyltransferase, including Lesch-Nyhan syndrome; glucose 6-phosphatase including glycogen ... phosphoribosyltransferase. Allopurinol was also commonly used to treat tumor lysis syndrome in chemotherapeutic treatments, as ...
adenine. adenine phosphoribosyltransferase (APRT). AMP Folate biosynthesis[edit]. Tetrahydrofolic acid and its derivatives are ... There are two types of phosphoribosyltransferases: adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine ... hypoxanthine/guanine phosphoribosyl transferase (HGPRT). IMP guanine. hypoxanthine/guanine phosphoribosyl transferase (HGPRT). ... Phosphoribosyltransferases add activated ribose-5-phosphate (Phosphoribosyl pyrophosphate, PRPP) to bases, creating nucleoside ...
Kamatani, N (1996). "Adenine phosphoribosyltransferase (APRT) deficiency". Nippon Rinsho. Japanese Journal of Clinical Medicine ... People afflicted with adenine phosphoribosyltransferase deficiency may produce 2,8-dihydroxyadenine stones,[62] alkaptonurics ...
The enzyme adenine phosphoribosyltransferase (APRT) salvages adenine. The enzyme hypoxanthine-guanine phosphoribosyltransferase ... Both adenine and guanine are derived from the nucleotide inosine monophosphate (IMP), which is the first compound in the ...
For example, adenine + PRPP --> AMP + PPi. This reaction requires the enzyme adenine phosphoribosyltransferase. Free guanine is ... Adenine and guanine are the two nucleotides classified as purines. In purine synthesis, PRPP is turned into inosine ... Lesch-Nyhan syndrome is caused by a deficiency in hypoxanthine-guanine phosphoribosyltransferase or HGPRT, the enzyme that ... salvaged in the same way except it requires hypoxanthine-guanine phosphoribosyltransferase. Defects in purine catabolism can ...
A Saccharomyces cerevisiae gene encoding a potential adenine phosphoribosyltransferase. Yeast 1994;10 (5): 659-662. Martin DR, ...
"Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine ... 2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxy-adenine urolithiasis. Diculescu, VC; Piedade ...
Examples include: adenine phosphoribosyltransferase hypoxanthine-guanine phosphoribosyltransferase pertussis toxin poly ADP ...
These enzymes found in the glycosome to help with synthesis are guanine and adenine phosphoribosyl transferase, hypoxanthine, ...
... adenine phosphoribosyltransferase EC 2.4.2.8: hypoxanthine phosphoribosyltransferase EC 2.4.2.9: uracil ... orotate phosphoribosyltransferase EC 2.4.2.11: now EC 6.3.4.21 EC 2.4.2.12: nicotinamide phosphoribosyltransferase EC 2.4.2.13 ... ATP phosphoribosyltransferase EC 2.4.2.18: anthranilate phosphoribosyltransferase EC 2.4.2.19: nicotinate-nucleotide ... nicotinate-nucleotide-dimethylbenzimidazole phosphoribosyltransferase EC 2.4.2.22: xanthine phosphoribosyltransferase EC 2.4. ...
... adenine phosphoribosyltransferase MeSH D08.811.913.400.725.115 --- adp ribose transferases MeSH D08.811.913.400.725.115.180 ... anthranilate phosphoribosyltransferase MeSH D08.811.913.400.725.200 --- ATP phosphoribosyltransferase MeSH D08.811.913.400. ... 725.450 --- hypoxanthine phosphoribosyltransferase MeSH D08.811.913.400.725.700 --- orotate phosphoribosyltransferase MeSH ... flavin-adenine dinucleotide MeSH D08.211.474.650.500 --- flavin mononucleotide MeSH D08.211.790.249 --- g(m2) activator protein ...
... thumb club foot syndrome Adducted thumb syndrome recessive form Adducted thumbs Dundar type Adenine phosphoribosyltransferase ...
Adenine phosphoribosyltransferase Hypoxanthine-guanine phosphoribosyltransferase Orotate phosphoribosyltransferase Uracil ... A phosphoribosyltransferase is a type of transferase enzyme. Types include: ...
"Adenine phosphoribosyltransferase isoforms of Arabidopsis and their potential contributions to adenine and cytokinin metabolism ... Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. It is part ... Adenine phosphoribosyltransferase at the US National Library of Medicine Medical Subject Headings (MeSH) Human APRT genome ... Takeuchi H, Kaneko Y, Fujita J, Yoshida O (Apr 1993). "A case of a compound heterozygote for adenine phosphoribosyltransferase ...
Their relationship to hypoxanthine and adenine phosphoribosyltransfer activities". J. Biol. Chem. 245 (10): 2605-11. PMID ... In enzymology, a xanthine phosphoribosyltransferase (EC 2.4.2.22) is an enzyme that catalyzes the chemical reaction XMP + ... Other names in common use include Xan phosphoribosyltransferase, xanthosine 5'-phosphate pyrophosphorylase, xanthylate ...
Revollo JR, Grimm AA, Imai S (March 2007). "The regulation of nicotinamide adenine dinucleotide biosynthesis by Nampt/PBEF/ ... Nicotinamide phosphoribosyltransferase (NAmPRTase or Nampt) also known as pre-B-cell colony-enhancing factor 1 (PBEF1) or ... This protein is the rate-limiting enzyme in the Nicotinamide adenine dinucleotide (NAD+) salvage pathway that converts ... is a nicotinamide phosphoribosyltransferase, a cytosolic enzyme involved in NAD biosynthesis". Eur. J. Immunol. 32 (11): 3225- ...
... at NIH's Office of Rare Diseases APRT at the Rare Kidney Stones Consortium. ... Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal ... Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking ... Kamatani, N (December 1996). "Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon rinsho. Japanese ...
... which plays a role in nicotinamide adenine dinucleotide biosynthesis. P7C3 compounds have previously been shown in a number of ... drug compounds P7C3 analogues involved in enhancing the activity of the enzyme nicotinamide phosphoribosyltransferase, ...
... adenine) phosphoribosyltransferase, nicotinate-nucleotide:dimethylbenzimidazole phospho-D-ribosyltransferase, and nicotinate ... In enzymology, a nicotinate-nucleotide-dimethylbenzimidazole phosphoribosyltransferase (EC 2.4.2.21) is an enzyme that ... Other names in common use include CobT, nicotinate mononucleotide-dimethylbenzimidazole phosphoribosyltransferase, nicotinate ... 6-dimethylbenzimidazole phosphoribosyltransferase responsible for the synthesis of N1-(5-phospho-alpha-D-ribosyl)-5,6- ...
Adenine Guanine Xanthine "Estimation of Plasmodium falciparum drug susceptibility by the 3H-hypoxanthine uptake inhibition ... Hypoxanthine-guanine phosphoribosyltransferase converts hypoxanthine into IMP in nucleotide salvage. Hypoxanthine is also a ... Because of its resemblance to guanine, the spontaneous deamination of adenine can lead to an error in DNA transcription/ ... including the DNA and RNA components adenine and guanine, may have been formed extraterrestrially in outer space. The Pheretima ...
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
Hypoxanthine-guanine phosphoribosyltransferase. *Adenine phosphoribosyltransferase. Catabolism. *Adenosine deaminase. *Purine ... of two independent crystal structures of human dihydrofolate reductase ternary complexes reduced with nicotinamide adenine ...
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
Adenine phosphoribosyltransferase deficiency. Catabolism. *Adenosine deaminase deficiency. *Purine nucleoside phosphorylase ... Purine content of foods varies (see Gout). Foods high in the purines adenine and hypoxanthine may be more potent in ... Ethanol also increases the plasma concentrations of hypoxanthine and xanthine via the acceleration of adenine nucleotide ... in serum and urinary uric acid levels in normal human subjects fed purine-rich foods containing different amounts of adenine ...
3. 25 mum-6-Mercaptopurine did not inhibit adenine phosphoribosyltransferase. 6-Mercaptopurine is a competitive inhibitor of ... 2. At pH 7.8 and 25 degrees the Michaelis constants for adenine, guanine and hypoxanthine were 0.9 mum, 2.9 mum and 11.0 mum in ... guanine phosphoribosyltransferase (K(i) 4.7 mum) and hypoxanthine phosphoribosyltransferase (K(i) 8.3 mum). Hypoxanthine is a ... adenine, [8-(14)C]guanine and [8-(14)C]hypoxanthine respectively in the presence of 5-phosphoribosyl pyrophosphate and an ...
Catalytic and anticatalytic snapshots of a short-form ATP phosphoribosyltransferase Magnus S. Alphey , Gemma Fisher , Ying Ge ... In both ternary complexes with PRPP-ATP, the adenine ring is found in an anticatalytic orientation, rotated 180° from the ... The enzyme ATP phosphoribosyltransferase (ATPPRT) catalyses the first reaction in histidine biosynthesis, the magnesium- ...
... medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/ Adenine phosphoribosyltransferase deficiency. ... Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The ... Adenine phosphoribosyltransferase deficiency in children. Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0 ... Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J ...
"Adenine phosphoribosyltransferase isoforms of Arabidopsis and their potential contributions to adenine and cytokinin metabolism ... Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. It is part ... Adenine phosphoribosyltransferase at the US National Library of Medicine Medical Subject Headings (MeSH) Human APRT genome ... Takeuchi H, Kaneko Y, Fujita J, Yoshida O (Apr 1993). "A case of a compound heterozygote for adenine phosphoribosyltransferase ...
Adenine phosphoribosyltransferase deficiency at NIHs Office of Rare Diseases APRT at the Rare Kidney Stones Consortium. ... Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal ... Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking ... Kamatani, N (December 1996). "Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon rinsho. Japanese ...
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. S J Engle, M G Stockelman, J ... Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. S J Engle, M G Stockelman, J ... Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. S J Engle, M G Stockelman, J ... Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis Message Subject (Your Name) has ...
Adenine Phosphoribosyltransferase (APRT) Antigen-Profil Beschreibung des Gens Adenine phosphoribosyltransferase belongs to the ... Weitere Produktkategorien zu Adenine Phosphoribosyltransferase Antikörper * 93 anti-Adenine Phosphoribosyltransferase Primary ... anti-Adenine Phosphoribosyltransferase (APRT) Antikörper. Bezeichnung:. anti-Adenine Phosphoribosyltransferase Antikörper (APRT ... Am meisten referenzierte anti-Adenine Phosphoribosyltransferase Antikörper. Show all anti-Adenine Phosphoribosyltransferase ( ...
OMIM: ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT, 614723*Gene Ontology: Aprt *Mouse Phenome DB: Aprt *UCSC: Chr.8:122,574,637- ... adenine phosphoribosyl transferase. Gene nomenclature, locus information, and GO, OMIM, and PMID associations are updated daily ...
CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity ...
APRT adenine phosphoribosyltransferase [ Homo sapiens ]. Synonyms:. APRT; adenine phosphoribosyltransferase; AMP; MGC125856; ... AMP binding; adenine binding; adenine phosphoribosyltransferase activity; protein binding; transferase activity, transferring ... Recombinant Human Adenine phosphoribosyltransferase. Download Datasheet See All APRT Products. Bring this labeled protein ... APRT (adenine phosphoribosyltransferase) is a 180 amino acid protein that localizes to the cytoplasm and belongs to the purine/ ...
... which catalyzes the conversion of adenine to adenylic acid in the presence of phosphoribosylpyrophosphate (PRPP). In a complete ... Adenine phosphoribosyltransferase (APRT) is a purine salvage enzyme, ... Adenine phosphoribosyltransferase (APRT) is a purine salvage enzyme, which catalyzes the conversion of adenine to adenylic acid ... Y. Hidaka, S. A. Tarie, S. Fujimori, N. Kamatani, W. N. Kelley, and T. D. Palella, Human adenine phosphoribosyltransferase ...
Hypoxanthine incorporation and nucleotide imbalance in wild-type and adenine phosphoribosyl transferase-deficient Friend ... Hypoxanthine incorporation and nucleotide imbalance in wild-type and adenine phosphoribosyl transferase-deficient Friend ... Hypoxanthine incorporation and nucleotide imbalance in wild-type and adenine phosphoribosyl transferase-deficient Friend ... Hypoxanthine incorporation and nucleotide imbalance in wild-type and adenine phosphoribosyl transferase-deficient Friend ...
Recombinant Protein and Adenine phosphoribosyltransferase Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and ... Adenine phosphoribosyltransferase. Adenine phosphoribosyltransferase ELISA Kit. Adenine phosphoribosyltransferase Recombinant. ... Adenine phosphoribosyltransferase 1. Adenine phosphoribosyltransferase 1 ELISA Kit. Adenine phosphoribosyltransferase 1 ... Adenine phosphoribosyltransferase 2. Adenine phosphoribosyltransferase 2 ELISA Kit. Adenine phosphoribosyltransferase 2 ...
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. *Birgit S. Gathof, Amrik ... A complete cDNA for adenine phosphoribosyltransferase fromArabidopsis thaliana. *Barbara A. Moffatt, Elizabeth Mcwhinnie, ... The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. * ... Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus. * ...
Adenine Phosphoribosyltransferase (APRT) profil antigène Antigen Summary Adenine phosphoribosyltransferase belongs to the ... De plus, nous expédions Adenine Phosphoribosyltransferase Protéines (18) et Adenine Phosphoribosyltransferase Kits (11) et ... Alternative names and synonyms associated with Adenine Phosphoribosyltransferase (APRT) * adenine phosphoribosyltransferase ( ... anti-Adenine Phosphoribosyltransferase Anticorps (APRT). Chez www.anticorps-enligne.fr sont 101 Adenine ...
Adenine phosphoribosyltransferase deficiency. At least 40 mutations in the APRT gene have been found to cause adenine ... The APRT gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT). This enzyme is ... Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J ... APRT gene mutations lead to a lack of functional enzyme that prevents the conversion of adenine to AMP. As a result, adenine is ...
Total deficiency of adenine phosphoribosyltransferase was confirmed by direct measurements of the enzyme activity in lysed red ...
Adenine phosphoribosyltransferase - Also known as APT_BURP6, apt. Catalyzes a salvage reaction resulting in the formation of ...
Adenine phosphoribosyltransferase - Also known as APT_STRAW, apt. Catalyzes a salvage reaction resulting in the formation of ...
Adenine phosphoribosyltransferase - Also known as APT_HUMAN, APRT. Catalyzes a salvage reaction resulting in the formation of ...
... Title:. Adenine Phosphoribosyltransferase ... Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results ...
It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7. ... An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. ...
Variants studied for adenine phosphoribosyltransferase deficiency Included ClinVar conditions (1):*Adenine ...
Mutants deficient in adenine aminohydrolase (EC 3.5.4.2) activity, aahl, and hypoxanthine: guanine phosphoribosyltransferase ( ... and strains of the genotype ade2 aptl responded to both adenine and hypoxanthine. ... in strains with these genotypes confirmed the hypothesis that the residual A-PRT activity of aptl mutants was due to adenine ... aminohydrolase and hypoxanthine:guanine phosphoribosyltransferase acting in concert. ...
Emmerson, B.T., Gordon, R.B. and Thompson, L.: Adenine phosphoribosyltransf erase deficiency in a female with gout. Ibid 41 A: ... Partial deficiency of adenine phosphoribosyltransferase (APRT), the enzyme catalyzing the transport of the ribosylphosphate ... Delbarre, F., Auscher, C., Amor, B. and de Gery, A.: Gout with adenine phosphoribosyltransferase deficiency. Ibid. 41 A: 333, ... Van Acker K.J., Simmonds H.A., Cameron J.S. (1977) Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family ...
  • Both adenine and guanine are derived from the nucleotide inosine monophosphate (IMP), which is synthesised on a pre-existing ribose-phosphate through a complex pathway using atoms from the amino acids glycine, glutamine, and aspartic acid, as well as formate ions transferred from the coenzyme tetrahydrofolate . (wikibooks.org)
  • Adenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position. (drugbank.ca)
  • Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes. (yale.edu)
  • S. Fujimori, I. Akaoka, K. Sakamoto, H. Yamanaka, K. Nishioka and N. Kamatani, Common characteristics of mutant adenine phospho-ribosyltransferases from four separate Japanese families with 2, 8-dihydroxyadenine urolithiasis associated with partial enzyme deficiency, Hum. (springer.com)
  • T. Nobori, N. Kamatani, K. Mikanagi, Y. Nishida, and K. Nishioka, Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies. (springer.com)
  • Emmerson, B.T., Gordon, R.B. and Thompson, L.: Adenine phosphoribosyltransf erase deficiency: its inheritance and occurrence in a female with gout and renal disease. (fjmu.edu.cn)
  • Both adenine-fed wild-type (WT) and Jα18KO mice exhibited renal dysfunction, but adenine-fed Jα18KO mice presented higher expression of kidney injury molecule-1 (KIM-1), tumor necrosis factor (TNF)-α and type I collagen. (springer.com)
  • However, this improvement in renal function was not observed in IFN-γKO mice after αGalCer treatment and adenine feeding, illustrating that this cytokine plays a role in our model. (springer.com)
  • 6 ) demonstrated that an excessive intake of adenine would lead to renal injury. (springer.com)
  • Adenine is produced endogenously but its long-term ingestion results in 2,8-dihydrox-yadenine precipitation inside the renal tubules, leading to the formation of kidney stones, with extensive tubular dilation, inflammation, necrosis and fibrosis. (springer.com)
  • Zusätzlich bieten wir Ihnen Adenine Phosphoribosyltransferase Proteine (18) und Adenine Phosphoribosyltransferase Kits (11) und viele weitere Produktgruppen zu diesem Protein an. (antikoerper-online.de)