AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
Adenine PhosphoribosyltransferasePentosyltransferasesHypoxanthine PhosphoribosyltransferaseAdenineHypoxanthinesPhosphoribosyl PyrophosphateOrotate PhosphoribosyltransferaseChromosomes, Human, 16-18Nicotinamide PhosphoribosyltransferaseAzaserinePurinesLesch-Nyhan SyndromePentosephosphatesATP PhosphoribosyltransferasePurine-Nucleoside PhosphorylaseCarcinoma, Ehrlich TumorAdenosine MonophosphateAnthranilate PhosphoribosyltransferaseCricetinaeNucleotidesMutationHeterozygote DetectionHybrid CellsGenesBase SequenceAzaguaninePurine-Pyrimidine Metabolism, Inborn ErrorsCricetulusMolecular Sequence DataBlotting, SouthernGlucosyltransferasesKineticsAdenine NucleotidesDNACHO CellsErythrocytesCell LineAllelesAcrylamidesNicotinamide MononucleotideAmino Acid SequenceHypoxanthineElectronic MailUDPglucose-Hexose-1-Phosphate UridylyltransferaseGalactosemiasUTP-Hexose-1-Phosphate UridylyltransferaseEncephalomalacia
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)
Pentosephosphates
ATP 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 Errors
Cricetulus
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 Nucleotides
DNA
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.
Encephalomalacia
Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)

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)

Adenine Phosphoribosyltransferase Deficiency Symptoms, Doctors, Treatments, Advances & More | MediFindAdenine Phosphoribosyltransferase Deficiency Symptoms, Doctors, Treatments, Advances & More | MediFind
Find everything you need to know about Adenine Phosphoribosyltransferase Deficiency including doctors, latest advances, and ongoing clinical trials.
https://www.medifind.com/conditions/adenine-phosphoribosyltransferase-deficiency/116
Model involving gene inactivation in the generation of autosomal recessive mutants in mammalian cells in culture - UC DavisModel involving gene inactivation in the generation of autosomal recessive mutants in mammalian cells in culture - UC Davis
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 ...
https://ucdavis.pure.elsevier.com/en/publications/model-involving-gene-inactivation-in-the-generation-of-autosomal-/
UniProtKB/SwissProt variant VAR 069051UniProtKB/SwissProt variant VAR 069051
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 ...
http://web.expasy.org/variant_pages/VAR_069051.html
2,8- Dihydroxyadenine Urinary Stones | College of Veterinary Medicine - University of Minnesota2,8- Dihydroxyadenine Urinary Stones | College of Veterinary Medicine - University of Minnesota
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
https://vetmed.umn.edu/research/labs/canine-genetics-lab/canine-genetic-testing/28-dihydroxyadenine-urolithiasis
Plus itPlus it
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 ...
http://cancerres.aacrjournals.org/content/52/23/6471
SYSTEM AND METHODS FOR PROCESSING ANALYTE SENSOR DATA - Patent applicationSYSTEM AND METHODS FOR PROCESSING ANALYTE SENSOR DATA - Patent application
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; ...
http://www.patentsencyclopedia.com/app/20120283541
OriGene - APRT (NM 000485) Human ORF cDNA CloneOriGene - APRT (NM 000485) Human ORF cDNA Clone
APRT - APRT (Myc-DDK-tagged)-Human adenine phosphoribosyltransferase (APRT), transcript variant 1 available for purchase from OriGene - Your Gene Company.
http://www.origene.com/orf_clone/trueclone/NM_000485/RC216874/APRT.aspx
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...
Thank you for your interest in spreading the word about Biochemical Society Transactions.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
http://www.biochemsoctrans.org/content/18/4/618.1
Cloning, expression and biochemical characterization of xanthine and adenine phosphoribosyltransferases from thermus...Cloning, expression and biochemical characterization of xanthine and adenine phosphoribosyltransferases from thermus...
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 ...
http://abacus.universidadeuropea.es/handle/11268/6505
RT² qPCR Primer Assay for Mouse AprtRT² qPCR Primer Assay for Mouse Aprt
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 ...
http://www.sabiosciences.com/primerinfo.php?pcatn=PPM24709A
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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 ...
http://cancerres.aacrjournals.org/content/65/9_Supplement/643.3
All transcript variants in gene APRT - Whole genome datasetsAll transcript variants in gene APRT - Whole genome datasets
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
https://databases.lovd.nl/whole_genome/variants/APRT
Human hg38 chr20:49,493,874-49,578,170 UCSC Genome Browser v395Human hg38 chr20:49,493,874-49,578,170 UCSC Genome Browser v395
Click on a feature for details. Click or drag in the base position track to zoom in. Click side bars for track options. Drag side bars or labels up or down to reorder tracks. Drag tracks left or right to new position. Press ? for keyboard shortcuts ...
http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgt.customText=http://www.genecards.org/all_genecards_v4.13.txt&position=chr20:49493874-49578170
Origin and Evolution of EukaryotesOrigin and Evolution of Eukaryotes
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.
https://www.cshlpress.com/default.tpl?action=full&cart=1573282201685277850&--eqskudatarq=1010&typ=ps&newtitle=Origin%20and%20Evolution%20of%20Eukaryotes%20
Studies on the mechanism of 3-deazaguanine cytotoxicity in L1210-sensitive and -resistant cell lines<...Studies on the mechanism of 3-deazaguanine cytotoxicity in L1210-sensitive and -resistant cell lines<...
TY - JOUR. T1 - Studies on the mechanism of 3-deazaguanine cytotoxicity in L1210-sensitive and -resistant cell lines. AU - Singh, Gurcharn. AU - Luna, Marian K.. AU - Ardalan, Bach. PY - 1988/9/1. Y1 - 1988/9/1. N2 - 3-Deazaguanine (3-DG), a purine analogue, has unusual antitumor activity against experimental mammary tumor models and a number of other solid tumors. Others have shown that mutant CHO cells deficient in hypoxanthine guanine phosphoribosyl transferase (HGPRTase) or adenine phosphoribosyl transferase (APRTase) are resistant to 3-DG. We developed a L1210 cell line resistant to 3-DG, L1210/3-DG, by subculturing the parent L1210/0 cells in the presence of increasing concentrations of 3-DG. The IC50 was 3.5 μM and 620 μM for L1210/0 and L1210/3-DG, respectively. Cytotoxicity studies proved the resistance to be stable. Examination of the baseline-specific activity of HGPRTase and APRTase showed that the former was 118-fold lower in L1210/3-DG than in L1210/0, and the latter demonstrated ...
https://miami.pure.elsevier.com/en/publications/studies-on-the-mechanism-of-3-deazaguanine-cytotoxicity-in-l1210-
Search Results | SOAR (Scholarly Open Access at Rutgers)Search Results | SOAR (Scholarly Open Access at Rutgers)
AbstractMismatch repair (MMR) is critical for preserving genomic integrity. Failure of this system can accelerate somatic mutation and increase the risk of developing cancer. MSH6, in complex with MSH2, is the MMR protein that mediates DNA repair through the recognition of 1- and 2-bp mismatches. To evaluate the effects of MSH6 deficiency on genomic stability we compared the frequency of in vivo loss of heterozygosity (LOH) between MSH6-proficient and deficient, 129S2 x C57BL/6 F1 hybrid mice that were heterozygous for our reporter gene Aprt. We recovered mutant cells that had functionally lost APRT protein activity and categorized the spectrum of mutations responsible for the LOH events. We also measured the mutant frequency at the X-linked gene, Hprt, as a second reporter for point mutation. In Msh6-/-Aprt+/- mice, mutation frequency at Aprt was elevated in both T cells and fibroblasts by 2.5-fold and 5.7-fold, respectively, over Msh6+/+Aprt+/- littermate controls. While a modest increase in ...
https://soar.libraries.rutgers.edu/search-results?q1=%22Kucherlapati,%20Raju%22&q1field=facet:author&key=soar
2,8 DHA Crystalline Nephropathy - Arkana Laboratories2,8 DHA Crystalline Nephropathy - Arkana Laboratories
The renal biopsy shown here has crystals present within the tubular lumens and cytoplasm with a brownish appearance by H&E (A) that are strongly silver positive on the Jones methenamine silver stain (B). The crystals are birefringent when viewed under polarized light (C). These findings are characteristic of 2,8 DHA crystal deposition in the kidney resulting from a deficiency of adenine phosphoribosyltransferase. 2,8 dihydroxyadeninuria is an autosomal recessive disease resulting from pathogenic variants in the APRT gene. It is an important disease to recognize as treatment with a low purine diet and allopurinol therapy blocks formation of 2,8 DHA and can improve renal function. The differential diagnosis includes other crystalline nephropathies. One that is less well known but has a similar histopathology is triamterene crystalline nephropathy, which can be distinguished from 2,8 DHA by the presence of Maltese crosses under polarized light. ...
https://www.arkanalabs.com/28-dihydroxyadeninuria/
Plus itPlus it
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 ...
http://molpharm.aspetjournals.org/content/early/2013/08/01/mol.113.087247
Hereditary causes of kidney stones and chronic kidney disease | SpringerLinkHereditary causes of kidney stones and chronic kidney disease | SpringerLink
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but imp
https://link.springer.com/article/10.1007/s00467-012-2329-z
Most recent papers with the keyword gigley | Read by QxMDMost recent papers with the keyword gigley | Read by QxMD
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 ...
https://www.readbyqxmd.com/keyword/101111
SAOUHSC 00766 - AureoWikiSAOUHSC 00766 - AureoWiki
MetabolismPurines, pyrimidines, nucleosides, and nucleotidesSalvage of nucleosides and nucleotideshypoxanthine phosphoribosyltransferase (TIGR01203; EC 2.4.2.8; HMM-score: 22.2) ...
http://aureowiki.med.uni-greifswald.de/SAOUHSC_00766
NWMN RS06270 - AureoWikiNWMN RS06270 - AureoWiki
MetabolismPurines, pyrimidines, nucleosides, and nucleotidesSalvage of nucleosides and nucleotideshypoxanthine phosphoribosyltransferase (TIGR01203; EC 2.4.2.8; HMM-score: 44.3) ...
http://aureowiki.med.uni-greifswald.de/NWMN_RS06270
Ebook Investitionen, Unsicherheit Und RealoptionenEbook Investitionen, Unsicherheit Und Realoptionen
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.
http://www.scoutconnection.com/wwwboard/ebook.php?q=ebook-Investitionen%2C-Unsicherheit-und-Realoptionen/
Allopurinol Tablets BP 100mgAllopurinol Tablets BP 100mg
Allopurinol is indicated for reducing urate/uric acid formation in conditions where urate/uric acid deposition has already occurred (e.g. gouty arthritis, skin tophi, nephrolithiasis) or is a predictable clinical risk (e.g. treatment of malignancy potentially leading to acute uric acid nephropathy). The main clinical conditions where urate/uric acid deposition may occur are: idiopathic gout; uric acid lithiasis; acute uric acid nephropathy; neoplastic disease and myeloproliferative disease with high cell turnover rates, in which high urate levels occur either spontaneously, or after cytotoxic therapy; certain enzyme disorders which lead to overproduction of urate, for example: hypoxanthine-guanine phosphoribosyltransferase, including Lesch-Nyhan syndrome; glucose-6-phosphatase including glycogen storage disease; phosphoribosylpyrophosphate synthetase, phosphoribosylpyrophosphate amidotransferase; adenine phosphoribosyltransferase. Allopurinol is indicated for management of 2,8-dihydroxyadenine ...
https://www.medthority.com/drugs/m-musculo-skeletal-system/m04/m04a/m04aa/m04aa01/allopurinol-tablets-bp-100mg2/
The genetics of the Dras3-Roughened-ecdysoneless chromosomal region (62B3-4 to 62D3-4) in Drosophila melanogaster: analysis of...The genetics of the Dras3-Roughened-ecdysoneless chromosomal region (62B3-4 to 62D3-4) in Drosophila melanogaster: analysis of...
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 ...
https://www.genetics.org/content/123/2/327
Pages that link to Hypoxanthine-guanine phosphoribosyltransferase - wikidocPages that link to Hypoxanthine-guanine phosphoribosyltransferase - wikidoc
The following pages link to Hypoxanthine-guanine phosphoribosyltransferase: View (previous 20 , next 20) (20 , 50 , 100 , 250 , 500) ...
https://www.wikidoc.org/index.php?title=Special:WhatLinksHere/Hypoxanthine-guanine_phosphoribosyltransferase&limit=20
A mycobacterial phosphoribosyltransferase promotes bacillary survival by inhibiting oxidative stress and autophagy pathways in...A mycobacterial phosphoribosyltransferase promotes bacillary survival by inhibiting oxidative stress and autophagy pathways in...
Mycobacterium tuberculosis (Mtb) employs various strategies to modulate host immune responses to facilitate its persistence in macrophages. The Mtb cell wall contains numerous glycoproteins with unknown role in pathogenesis. Here, by using concavalinA and LC-MS analysis we identified a novel mannosylated glycoprotein phosphoribosyl- transferase, encoded by the Rv3242c, from Mtb cell walls. Homology modeling, bioinformatic analyses and assay of phosphoribosyltransferase activity measurement in Mycobacterium smegmatis expressing recombinant Rv3242c (MsmRv3242c) confirmed the mass spectrometry data. Using Mycobacterium marinum-zebrafish and the surrogate MsmRv3242c infection models, we proved that phosphoribosyltransferase is involved in mycobacterial virulence. Histological and infection assays showed that M. marinum mimG mutant, an Rv3242c orthologue in a pathogenic M. marinum strain, was strongly attenuated in adult zebrafish and also survived less in macrophages. In contrast, infection with ...
https://portal.research.lu.se/portal/en/publications/a-mycobacterial-phosphoribosyltransferase-promotes-bacillary-survival-by-inhibiting-oxidative-stress-and-autophagy-pathways-in-macrophages-and-zebrafish
Imprinting of phosphoribosyltransferases during preimplantation development of the mouse mutant, Hprtb-m3 | DevelopmentImprinting of phosphoribosyltransferases during preimplantation development of the mouse mutant, Hprtb-m3 | Development
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 ...
https://dev.biologists.org/content/115/4/1011
Free Mecánica EstadísticaFree Mecánica Estadística
well, this free aims a clear regulation of the lists submodel( accomplished below), summarized as the phosphoribosyltransferase file. meaningfully, the superior proportional free Mecánica revisited suggested yielding a superior Markov producer. 2 With a major free 4)-covariance event to the normal circularization of longitudinal mortality cells and a 1250 rings model is to produce the case of a using organism object; for joineRML, model to fragment.
http://www.scoutconnection.com/wwwboard/ebook.php?q=free-Meca%CC%81nica-estadi%CC%81stica/
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency as the Unsuspected Cause of Renal Disease Spanning Three...Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency as the Unsuspected Cause of Renal Disease Spanning Three...
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, ...
http://pediatrics.aappublications.org/content/109/1/e17
Disease InfoSearch - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency - Definition, causes, resources and...Disease InfoSearch - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency - Definition, causes, resources and...
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations.
https://diseaseinfosearch.org/Partial+hypoxanthine-guanine+phosphoribosyltransferase+deficiency/9096
Rare Kidney Stone Consortium Biobank - Full Text View - ClinicalTrials.govRare Kidney Stone Consortium Biobank - Full Text View - ClinicalTrials.gov
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 ...
https://clinicaltrials.gov/ct2/show/NCT02026388?cond=%22cystinuria%22&rank=2
X-chromosome activity in preimplantation mouse embryos from XX and XO mothersX-chromosome activity in preimplantation mouse embryos from XX and XO mothers
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 …
https://pubmed.ncbi.nlm.nih.gov/568162/?dopt=Abstract
Edema & Jaundice & Sloping Shoulders: Causes & Reasons - SymptomaEdema & Jaundice & Sloping Shoulders: Causes & Reasons - Symptoma
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.
https://www.symptoma.com/en/ddx/edema+jaundice+sloping-shoulders
TIGR01091TIGR01091
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 ...
http://www.jcvi.org/cgi-bin/tigrfams/HmmReportPage.cgi?acc=TIGR01091
Reactome | APRT [secretory granule lumen]Reactome | APRT [secretory granule lumen]
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
https://www.reactome.org/content/detail/R-HSA-6801079
Arkansas Natural Gas SummaryArkansas Natural Gas Summary
Notes: Prices are in nominal dollars. Through 2001, electric power price data are for regulated electric utilities only; beginning in 2002, data also include nonregulated members of the electric power sector. Monthly preliminary (from January 2018 to present) state-level data for the production series, except marketed production, are not available until after the final annual reports for this series is collected and processed. Final annual data are generally available in the third quarter of the following year. Gas volumes delivered for use as vehicle fuel are included in the State annual totals through 2010 but not in the State monthly components. Gas volumes delivered for vehicle fuel are included in the State monthly totals from January 2011 forward. See Definitions, Sources, and Notes link above for more information on this table ...
https://www.eia.gov/dnav/ng/ng_sum_lsum_dcu_SAR_a.htm
Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates<...Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates<...
TY - JOUR. T1 - Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates. AU - Ullman, Buddy. AU - Carter, Darrick. N1 - Funding Information: Acknowledgemenrs-This work was supported by grant A I-23682 from the National Institute of Allergy and Infectrouh Disease. Buddy Ullman is a Burroughs Wellcome Fund Scholar in Molecular Parasitology, and this work was SUP ported in part by grant from The Burroughs Wel!cnme Fund.. PY - 1997/2. Y1 - 1997/2. N2 - All genera of protozoan parasites are auxotrophic for purines, and thus, purine acquisition from the host is a nutritional necessity for the survival and growth of these pathogens. Many of these parasites, including Trypanosoma brucei, Trypanosoma cruzi and Leishmania spp., access host purines by phosphoribosylating purine bases via purine phosphoribosyltransferase (PRT) enzymes. The trypanosomatid hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme has been implicated as a ...
https://ohsu.pure.elsevier.com/en/publications/molecular-and-biochemical-studies-on-the-hypoxanthine-guanine-pho-2
RCSB PDB - Obsolete - 5HHU: Plasmodium vivax hypoxanthine-guanine phosphoribosyltransferase in complex with [3R,4R]-4-guanin-9...RCSB PDB - Obsolete - 5HHU: Plasmodium vivax hypoxanthine-guanine phosphoribosyltransferase in complex with [3R,4R]-4-guanin-9...
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
https://www.rcsb.org/structure/removed/5HHU
Nucleoside phosphorylase/phosphoribosyltransferase N-terminal domain superfamilyNucleoside phosphorylase/phosphoribosyltransferase N-terminal domain superfamily
The SCOP classification for the Nucleoside phosphorylase/phosphoribosyltransferase N-terminal domain superfamily including the families contained in it. Additional information provided includes InterPro annotation (if available), Functional annotation, and SUPERFAMILY links to genome assignments, alignments, domain combinations, taxonomic visualisation and hidden Markov model information.
https://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47648
RCSB PDB - 2GEB: Crystal structure of the Thermoanaerobacter tengcongensis hypoxanthine-guanine phosphoribosyltransferase L160I...RCSB PDB - 2GEB: Crystal structure of the Thermoanaerobacter tengcongensis hypoxanthine-guanine phosphoribosyltransferase L160I...
As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
https://www.rcsb.org/structure/2geb
Effect of regional DNA methylation on gene expression. - MySci...Effect of regional DNA methylation on gene expression. - MySci...
Effect of regional DNA methylation on gene expression.: The effect of DNA methylation on the transcriptional activity of the hamster adenine phosphoribosyltrans
https://www.mysciencework.com/publication/show/effect-of-regional-dna-methylation-on-gene-expression
QPRT (quinolinate phosphoribosyltransferase) - KOMP (Knockout Mouse Project)QPRT (quinolinate phosphoribosyltransferase) - KOMP (Knockout Mouse Project)
The KOMP Repository is located at the University of California Davis and Childrens Hospital Oakland Research Institute. Question? Comments? For Mice, Cells, and germplasm please contact us at [email protected], US 1-888-KOMP-MICE or International +1-530-752-KOMP, or for vectors [email protected] or +1-510-450-7917 ...
https://www.komp.org/geneinfo.php?project=CSD83980
What does HGPRT stand for?What does HGPRT stand for?
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.
http://www.abbreviations.com/HGPRT
Lesch-Nyhan syndrome | DermNet NZLesch-Nyhan syndrome | DermNet NZ
Lesch-Nyhan syndrome, Complete HGPRT deficiency, Choreoathetosis self mutilation syndrome, Total HGPRT deficiency, HGPRT deficiency, HPRT, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch Nyhan disease, Hypoxanthine guanine phosphoribosyltransferase deficiency, X linked hyperuricaemia, Juvenile gout, MIM 300322, Lesch-Nyan syndrome. Authoritative facts from DermNet New Zealand.
https://www.dermnetnz.org/topics/leschnyhan-syndrome
Lesch-Nyhan SyndromeLesch-Nyhan Syndrome
Lesch-Nyhan syndrome 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 ...
http://healthboard.com/Encyclopedia/Biotech/term/lesch-nyhan_syndrome.html
HPRT1 Gene - GeneCards | HPRT Protein | HPRT AntibodyHPRT1 Gene - GeneCards | HPRT Protein | HPRT Antibody
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPRT1&bioalma_cpd_art=all
HPRT1 Gene - GeneCards | HPRT Protein | HPRT AntibodyHPRT1 Gene - GeneCards | HPRT Protein | HPRT Antibody
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPRT1&rf=/home/genecards/current/website/carddisp.pl&simap=2
Biochemical Correlates of Auto-Aggressive Behavior | SpringerLinkBiochemical Correlates of Auto-Aggressive Behavior | SpringerLink
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...
https://link.springer.com/chapter/10.1007/978-1-4613-0525-5_19
NIOSHTIC-2 Publications Search - 00111764 - Effect of acrylamide intoxication on pyridine nucleotide concentrations and...NIOSHTIC-2 Publications Search - 00111764 - Effect of acrylamide intoxication on pyridine nucleotide concentrations and...
The effect of acrylamide (79061) on pyridine nucleotide concentrations was studied in male Holtzman-rats. Animals were administered 40 milligrams per kilogram (mg/kg) per week of acrylamide and were sacrificed when the total cumulative dose was 428 or 668mg/kg. Rats given the lower cumulative dose developed mild symptoms of intoxication characterized by decreased body tone and increased excitabili
https://www.cdc.gov/niosh/nioshtic-2/00111764.html
AllopurinolAllopurinol
... 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 ...
https://en.wikipedia.org/wiki/Allopurinol
Kidney stone diseaseKidney stone disease
People afflicted with adenine phosphoribosyltransferase deficiency may produce 2,8-dihydroxyadenine stones, alkaptonurics ... Kamatani N (December 1996). "[Adenine phosphoribosyltransferase(APRT) deficiency]". Nihon Rinsho. Japanese Journal of Clinical ...
https://en.wikipedia.org/wiki/Kidney_stone_disease
Nucleotide salvageNucleotide salvage
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 ...
https://en.wikipedia.org/wiki/Nucleotide_salvage
Purine metabolismPurine metabolism
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 ... Hyperuricemia and Lesch-Nyhan syndrome by the loss of hypoxanthine-guanine phosphoribosyltransferase. Different types of cancer ...
https://en.wikipedia.org/wiki/Purine_metabolism
Nucleic acid metabolismNucleic acid metabolism
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 ...
https://en.wikipedia.org/wiki/Nucleic_acid_metabolism
Richard AxelRichard Axel
"DNA-mediated transfer of the adenine phosphoribosyltransferase locus into mammalian cells". Proceedings of the National Academy ...
https://en.wikipedia.org/wiki/Richard_Axel
Anton YuryevAnton Yuryev
A Saccharomyces cerevisiae gene encoding a potential adenine phosphoribosyltransferase Yuryev A, and Corden JL. Yeast 1994;10 ( ...
https://en.wikipedia.org/wiki/Anton_Yuryev
2,8-Dihydroxyadenine2,8-Dihydroxyadenine
... is excreted in the urine because of a deficiency in the adenine salvage enzyme adenine phosphoribosyltransferase. The defect is ... 2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxy-adenine urolithiasis. The poorly soluble ... "Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine ...
https://en.wikipedia.org/wiki/2,8-Dihydroxyadenine
PentosyltransferasePentosyltransferase
Examples include: adenine phosphoribosyltransferase hypoxanthine-guanine phosphoribosyltransferase pertussis toxin poly ADP ...
https://en.wikipedia.org/wiki/Pentosyltransferase
GlycosomeGlycosome
These enzymes found in the glycosome to help with synthesis are guanine and adenine phosphoribosyl transferase, hypoxanthine, ...
https://en.wikipedia.org/wiki/Glycosome
TransphosphoribosidaseTransphosphoribosidase
... may refer to: Adenine phosphoribosyltransferase, an enzyme Hypoxanthine phosphoribosyltransferase This ...
https://en.wikipedia.org/wiki/Transphosphoribosidase
APRTAPRT
... may refer to: Adenine phosphoribosyltransferase, an enzyme Adenine phosphoribosyltransferase deficiency, a genetic and ...
https://en.wikipedia.org/wiki/APRT
List of EC numbers (EC 2)List of EC numbers (EC 2)
... 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. ...
https://en.wikipedia.org/wiki/List_of_EC_numbers_(EC_2)
MetaproteomicsMetaproteomics
... adenine phosphoribosyltransferases, and guanine phosphoribosyltransferases. The human subjects experienced increases in ...
https://en.wikipedia.org/wiki/Metaproteomics
List of MeSH codes (D08)List of MeSH codes (D08)
... 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 D08.811. ... flavin-adenine dinucleotide MeSH D08.211.474.650.500 - flavin mononucleotide MeSH D08.211.790.249 - g(m2) activator protein ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(D08)
List of diseases (A)List of diseases (A)
... thumb club foot syndrome Adducted thumb syndrome recessive form Adducted thumbs Dundar type Adenine phosphoribosyltransferase ...
https://en.wikipedia.org/wiki/List_of_diseases_(A)
PhosphoribosyltransferasePhosphoribosyltransferase
Adenine phosphoribosyltransferase Hypoxanthine-guanine phosphoribosyltransferase Orotate phosphoribosyltransferase Uracil ... A phosphoribosyltransferase is a type of transferase enzyme. Types include: ...
https://en.wikipedia.org/wiki/Phosphoribosyltransferase
Adenine phosphoribosyltransferaseAdenine phosphoribosyltransferase
"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 ...
https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase
Xanthine phosphoribosyltransferaseXanthine 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 ...
https://en.wikipedia.org/wiki/Xanthine_phosphoribosyltransferase
Nicotinamide phosphoribosyltransferaseNicotinamide phosphoribosyltransferase
The intracellular form of this protein (iNAMPT) is the rate-limiting enzyme in the nicotinamide adenine dinucleotide (NAD+) ... Nicotinamide phosphoribosyltransferase (NAmPRTase or NAMPT), formerly known as pre-B-cell colony-enhancing factor 1 (PBEF1) or ... Revollo JR, Grimm AA, Imai S (March 2007). "The regulation of nicotinamide adenine dinucleotide biosynthesis by Nampt/PBEF/ ... Grolla AA, Travelli C, Genazzani AA, Sethi JK (2016). "Extracellular nicotinamide phosphoribosyltransferase, a new cancer ...
https://en.wikipedia.org/wiki/Nicotinamide_phosphoribosyltransferase
Adenine phosphoribosyltransferase deficiencyAdenine phosphoribosyltransferase deficiency
... is an autosomal recessive metabolic disorder associated with a mutation in the ... Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking ... Adenine phosphoribosyltransferase deficiency at NIH's Office of Rare Diseases. ... "Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon Rinsho. Japanese Journal of Clinical Medicine. 54 ...
https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency
Nicotinate-nucleotide-dimethylbenzimidazole phosphoribosyltransferaseNicotinate-nucleotide-dimethylbenzimidazole 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- ...
https://en.wikipedia.org/wiki/Nicotinate-nucleotide—dimethylbenzimidazole_phosphoribosyltransferase
Nicotinamide adenine dinucleotideNicotinamide adenine dinucleotide
The first step, and the rate-limiting enzyme in the salvage pathway is nicotinamide phosphoribosyltransferase (NAMPT), which ... Nicotinamide adenine dinucleotide (NAD) is a coenzyme central to metabolism. Found in all living cells, NAD is called a ... Nicotinamide adenine dinucleotide has several essential roles in metabolism. It acts as a coenzyme in redox reactions, as a ... Nicotinamide adenine dinucleotide consists of two nucleosides joined by a pair of bridging phosphate groups. The nucleosides ...
https://en.wikipedia.org/wiki/Nicotinamide_adenine_dinucleotide
HypoxanthineHypoxanthine
... also known as alkyl adenine glycosylase (Aag). Adenine Guanine Xanthine "Estimation of Plasmodium falciparum drug ... 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 ...
https://en.wikipedia.org/wiki/Hypoxanthine
Joseph TakahashiJoseph Takahashi
In 2009, Joseph Bass in collaboration with Takahashi's group discovered that nicotinamide phosphoribosyltransferase (NAMPT) ... mediated synthesis of metabolic coenzyme nicotinamide adenine dinucleotide (NAD+), which both oscillate on a daily cycle, may ...
https://en.wikipedia.org/wiki/Joseph_Takahashi
OligosaccharyltransferaseOligosaccharyltransferase
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
https://en.wikipedia.org/wiki/Oligosaccharyltransferase
Glycogen phosphorylaseGlycogen phosphorylase
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
https://en.wikipedia.org/wiki/Glycogen_phosphorylase
Dihydrofolate reductaseDihydrofolate reductase
Hypoxanthine-guanine phosphoribosyltransferase. *Adenine phosphoribosyltransferase. Catabolism. *Adenosine deaminase. *Purine ... of two independent crystal structures of human dihydrofolate reductase ternary complexes reduced with nicotinamide adenine ...
https://en.wikipedia.org/wiki/Dihydrofolate_reductase
Sucrose phosphorylaseSucrose phosphorylase
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
https://en.wikipedia.org/wiki/Sucrose_phosphorylase
HyperuricemiaHyperuricemia
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 ...
https://en.wikipedia.org/wiki/Hyperuricemia
Category:Infobox medical condition (new)Category:Infobox medical condition (new)
Adenine phosphoribosyltransferase deficiency. *Adenitis. *Adenocarcinoma. *Adenocarcinoma of the lung. *Adenoid cystic ...
https://en.wikipedia.org/wiki/Category:Infobox_medical_condition_
Kidney stone diseaseKidney stone disease
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 ...
https://en.wikipedia.org/wiki/Kidney_stones
Cholera toxinCholera toxin
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
https://en.wikipedia.org/wiki/Cholera_toxin
1,3-Beta-glucan synthase1,3-Beta-glucan synthase
Phosphoribosyltransferase. *Adenine phosphoribosyltransferase. *Hypoxanthine-guanine phosphoribosyltransferase. *Uracil ...
https://en.wikipedia.org/wiki/1,3-Beta-glucan_synthase
MIR34AMIR34A
miR-34a suppresses the gene expression of the NAMPT gene which encodes the nicotinamide phosphoribosyltransferase (Nampt) ... enzyme which is the rate-limiting enzyme in the nicotinamide adenine dinucleotide (NAD) salvage pathway, resulting in reduced ...
https://en.wikipedia.org/wiki/MIR34A
NucleotideNucleotide
The purine bases adenine and guanine and pyrimidine base cytosine occur in both DNA and RNA, while the pyrimidine bases thymine ... Orotate phosphoribosyltransferase (PRPP transferase) catalyzes the net reaction yielding orotidine monophosphate (OMP): Orotate ... Adenine forms a base pair with thymine with two hydrogen bonds, while guanine pairs with cytosine with three hydrogen bonds. In ... The four nucleobases in DNA are guanine, adenine, cytosine and thymine; in RNA, uracil is used in place of thymine. Nucleotides ...
https://en.wikipedia.org/wiki/Nucleotide
UracilUracil
The others are adenine (A), cytosine (C), and guanine (G). In RNA, uracil binds to adenine via two hydrogen bonds. In DNA, the ... Uracil also recycles itself to form nucleotides by undergoing a series of phosphoribosyltransferase reactions. Degradation of ... Uracil pairs with adenine through hydrogen bonding. When base pairing with adenine, uracil acts as both a hydrogen bond ... In RNA, uracil base-pairs with adenine and replaces thymine during DNA transcription. Methylation of uracil produces thymine. ...
https://en.wikipedia.org/wiki/Uracil
Purine riboswitchPurine riboswitch
The add adenine riboswitch has shown three distinct stable conformations in the presence of adenine. When unbound to adenine, ... The xpt gene encodes a specific xanthine phosphoribosyltransferase protein, which is involved in purine metabolism. Unlike the ... The Adenine Riboswitch selectively recognizes adenine, and contains a uracil ribonucleotide in position 74 of the adenine- ... In this way, an abundance of adenine can instigate the process of adenine's efflux from a cell. Unlike the add adenine ...
https://en.wikipedia.org/wiki/Purine_riboswitch
Adenine phosphoribosyltransferase deficiency: MedlinePlus GeneticsAdenine phosphoribosyltransferase deficiency: MedlinePlus Genetics
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. ... 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 ...
https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/
Adenine phosphoribosyltransferase - WikipediaAdenine phosphoribosyltransferase - Wikipedia
"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 ...
https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase
Adenine phosphoribosyltransferase deficiency - WikipediaAdenine phosphoribosyltransferase deficiency - Wikipedia
Adenine phosphoribosyltransferase deficiency is an autosomal recessive metabolic disorder associated with a mutation in the ... Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking ... Adenine phosphoribosyltransferase deficiency at NIHs Office of Rare Diseases. ... "Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon Rinsho. Japanese Journal of Clinical Medicine. 54 ...
https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis | PNASAdenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis | PNAS
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 ...
https://www.pnas.org/content/93/11/5307?ijkey=1215662c1bbcca393344a110cd65a47ad523f985&keytype2=tf_ipsecsha
RCSB PDB - 1G2P: CRYSTAL STRUCTURE OF ADENINE PHOSPHORIBOSYLTRANSFERASERCSB PDB - 1G2P: CRYSTAL STRUCTURE OF ADENINE PHOSPHORIBOSYLTRANSFERASE
ADENINE PHOSPHORIBOSYLTRANSFERASE 1. A. 187. Saccharomyces cerevisiae. Mutation(s): 0 EC: 2.4.2.7. ... Structural analysis of adenine phosphoribosyltransferase from Saccharomyces cerevisiae.. Shi, W., Tanaka, K.S., Crother, T.R., ... Adenine phosphoribosyltransferase (APRTase) is a widely distributed enzyme, and its deficiency in humans causes the ... Adenine phosphoribosyltransferase (APRTase) is a widely distributed enzyme, and its deficiency in humans causes the ...
https://www.rcsb.org/structure/1g2p
anti-Adenine Phosphoribosyltransferase Primary Antibodiesanti-Adenine Phosphoribosyltransferase Primary Antibodies
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 ( ...
https://www.antikoerper-online.de/ribonucleoside-biosynthetic-process-pathway-82/aprt-antibody-12383/
APRT (adenine phosphoribosyl transferase) - KOMP (Knockout Mouse Project)APRT (adenine phosphoribosyl transferase) - KOMP (Knockout Mouse Project)
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 ...
https://www.komp.org/geneinfo.php?geneid=23558
Adenine phosphoribosyltransferase deficiency - CheckOrphanAdenine phosphoribosyltransferase deficiency - CheckOrphan
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 ...
https://checkorphan.org/disease/adenine-phosphoribosyltransferase-deficiency/
Recombinant Human Adenine phosphoribosyltransferase APRT-1939H - Creative BioMartRecombinant Human Adenine phosphoribosyltransferase APRT-1939H - Creative BioMart
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/ ...
https://www.creativebiomart.net/description_7252_14.htm
Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese | Springer for Research ...Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese | Springer for Research ...
... 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 ...
https://rd.springer.com/chapter/10.1007/978-1-4684-5673-8_7
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 ... 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 ...
http://www.biochemsoctrans.org/content/18/4/618.1
Adenine phosphoribosyltransferase elisa and antibodyAdenine phosphoribosyltransferase elisa and antibody
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 ...
https://www.mybiosource.com/proteins-family/adenine-phosphoribosyltransferase
Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length...Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length...
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. * ...
https://www.semanticscholar.org/paper/Cloning-of-a-functional-human-adenine-%28APRT%29-gene%3A-Stambrook-Dush/650836cee44dc401d1a16ddf6de6c10799951edf
Hypoxanthine phosphoribosyltransferase/Adenine phosphoribosyltransferase:CRto:Pt:Placent:Qn | Semantic ScholarHypoxanthine phosphoribosyltransferase/Adenine phosphoribosyltransferase:CRto:Pt:Placent:Qn | Semantic Scholar
Hypoxanthine phosphoribosyltransferase/Adenine phosphoribosyltransferase:CRto:Pt:Placent:Qn. Known as: Hipoxantina ... Hypoxanthine phosphoribosyltransferase/Adenine phosphoribosyltransferase:Catalytic Ratio:Point in time:Placenta:Quantitative ... Studies on a cell line with amplified copies of the mouse hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene and HPRT… ... In-out gene targeting using a hypoxanthine phosphoribosyltransferase (HPRT) minigene was applied to generate two new alleles ...
https://www.semanticscholar.org/topic/Hypoxanthine-phosphoribosyltransferase%2FAdenine/10761998
anti-Adenine Phosphoribosyltransferase Primary Antibodiesanti-Adenine Phosphoribosyltransferase Primary Antibodies
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 ...
https://www.anticorps-enligne.fr/ribonucleoside-biosynthetic-process-pathway-82/aprt-antibody-12383/
APRT gene: MedlinePlus GeneticsAPRT gene: MedlinePlus Genetics
The APRT gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT). Learn about this gene ... 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 ...
https://medlineplus.gov/genetics/gene/aprt/
Adenine phosphoribosyltransferase deficiency in IcelandAdenine phosphoribosyltransferase deficiency in Iceland
Total deficiency of adenine phosphoribosyltransferase was confirmed by direct measurements of the enzyme activity in lysed red ...
https://www.hirsla.lsh.is/handle/2336/93501
A3N5L9 | apt | Adenine phosphoribosyltransferase | Druggability | CancerA3N5L9 | apt | Adenine phosphoribosyltransferase | Druggability | Cancer
Adenine phosphoribosyltransferase - Also known as APT_BURP6, apt. Catalyzes a salvage reaction resulting in the formation of ...
https://cansarblack.icr.ac.uk/target/A3N5L9/synopsis
Q827T5 | apt | Adenine phosphoribosyltransferase | Druggability | CancerQ827T5 | apt | Adenine phosphoribosyltransferase | Druggability | Cancer
Adenine phosphoribosyltransferase - Also known as APT_STRAW, apt. Catalyzes a salvage reaction resulting in the formation of ...
https://cansarblack.icr.ac.uk/target/Q827T5/synopsis
Kidney Disease in Adenine Phosphoribosyltransferase DeficiencyKidney Disease in Adenine Phosphoribosyltransferase Deficiency
BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and ...
https://www.hirsla.lsh.is/handle/2336/607264
P07741 | APRT | Adenine phosphoribosyltransferase | Druggability | CancerP07741 | APRT | Adenine phosphoribosyltransferase | Druggability | Cancer
Adenine phosphoribosyltransferase - Also known as APT_HUMAN, APRT. Catalyzes a salvage reaction resulting in the formation of ...
https://corona-2.cansar.icr.ac.uk/target/P07741/synopsis
Adenine Phosphoribosyltransferase, Human Recombinant Protein [228-12505]Adenine Phosphoribosyltransferase, Human Recombinant Protein [228-12505]
Adenine Phosphoribosyltransferase, Human Recombinant protein (code: 228-12505). Sterile Filtered colorless solution.Expression ... EC 2.4.2.73, MGC125857, AMP diphosphorylase, Adenine phosphoribosyltransferase, APRT, AMP, MGC125856, MGC129961, DKFZp686D13177 ...
https://www.raybiotech.com/adenine-phosphoribosyltransferase-human-recombinant/
Adenine Phosphoribosyltransferase Deficiency: Prevalence and Clinical OutcomesAdenine Phosphoribosyltransferase Deficiency: Prevalence and Clinical Outcomes
... Title:. Adenine Phosphoribosyltransferase ... Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results ...
https://opinvisindi.is/handle/20.500.11815/2065
No questions in Adenine Phosphoribosyltransferase - lookformedical.comNo questions in Adenine Phosphoribosyltransferase - lookformedical.com
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. ...
https://lookformedical.com/answers/en/chemicals-and-drugs/enzymes-and-coenzymes/enzymes/transferases/glycosyltransferases/pentosyltransferases/adenine-phosphoribosyltransferase
Variants studied for adenine phosphoribosyltransferase deficiency - ClinVar MinerVariants studied for adenine phosphoribosyltransferase deficiency - ClinVar Miner
Variants studied for adenine phosphoribosyltransferase deficiency Included ClinVar conditions (1):*Adenine ...
https://clinvarminer.genetics.utah.edu/variants-by-mondo-condition/13869
Adenine Phosphoribosyltransferase Mutants in Saccharomyces cerevisiae | Microbiology SocietyAdenine Phosphoribosyltransferase Mutants in Saccharomyces cerevisiae | Microbiology Society
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. ...
https://www.microbiologyresearch.org/content/journal/micro/10.1099/00221287-130-10-2629
Adenine Phosphoribosyltransferase Deficiency Symptoms, Doctors, Treatments, Advances & More | MediFindAdenine Phosphoribosyltransferase Deficiency Symptoms, Doctors, Treatments, Advances & More | MediFind
Find everything you need to know about Adenine Phosphoribosyltransferase Deficiency including doctors, latest advances, and ... What is the definition of Adenine Phosphoribosyltransferase Deficiency?. Adenine phosphoribosyltransferase (APRT) deficiency is ... How prevalent is Adenine Phosphoribosyltransferase Deficiency?. APRT deficiency is estimated to affect 1 in 27,000 people in ... Is Adenine Phosphoribosyltransferase Deficiency an inherited disorder?. This condition is inherited in an autosomal recessive ...
https://www.medifind.com/conditions/adenine-phosphoribosyltransferase-deficiency/116
Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family | SpringerLinkComplete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family | SpringerLink
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 ...
http://link-springer-com-443.webvpn.fjmu.edu.cn/chapter/10.1007/978-1-4613-4223-6_37
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APRTHypoxanthineEnzymeGenePathwaysNucleotidesPRPPSalvageKamataniNucleosidePyrimidineNicotinamide PhosphoribosyltransferaseGuanineAPRT2Phosphoribosyl PyrophosphateEnzymesRenalDeaminasePrecursorUrolithiasis
APRT30
  • Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. (medlineplus.gov)
  • This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). (medlineplus.gov)
  • Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. (wikipedia.org)
  • APRT is functionally related to hypoxanthine-guanine phosphoribosyltransferase (HPRT). (wikipedia.org)
  • Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). (wikipedia.org)
  • Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. (pnas.org)
  • Mice homozygous for a null Aprt allele excrete adenine and DHA crystals in the urine. (pnas.org)
  • Auf www.antikoerper-online.de finden Sie aktuell 96 Adenine Phosphoribosyltransferase (APRT) Antikörper von 22 unterschiedlichen Herstellern. (antikoerper-online.de)
  • A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency. (antikoerper-online.de)
  • APRT (adenine phosphoribosyltransferase) is a 180 amino acid protein that localizes to the cytoplasm and belongs to the purine/pyrimidine phosphoribosyltransferase family. (creativebiomart.net)
  • Existing as a homodimer, APRT functions to catalyze the formation of inorganic pyrophosphate and AMP from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP), a reaction that is essential for both purine metabolism and AMP biosynthesis. (creativebiomart.net)
  • Adenine phosphoribosyltransferase (APRT) is a purine salvage enzyme, which catalyzes the conversion of adenine to adenylic acid in the presence of phosphoribosylpyrophosphate (PRPP). (springer.com)
  • In a complete APRT deficient subject, accumulated adenine is oxidized to 2, 8-dihydroxyadenine (2, 8-DHA) by xanthine oxidase. (springer.com)
  • Also known as Adenine phosphoribosyltransferase (APRT). (mybiosource.com)
  • Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. (semanticscholar.org)
  • Chez www.anticorps-enligne.fr sont 101 Adenine Phosphoribosyltransferase (APRT) Anticorps de 22 de différents fournisseurs disponibles. (anticorps-enligne.fr)
  • The APRT gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT). (medlineplus.gov)
  • The APRT enzyme helps to recycle the purine adenine to make a molecule called adenosine monophosphate (AMP). (medlineplus.gov)
  • At least 40 mutations in the APRT gene have been found to cause adenine phosphoribosyltransferase (APRT) deficiency, a condition that affects the kidneys and urinary tract. (medlineplus.gov)
  • APRT gene mutations lead to a lack of functional enzyme that prevents the conversion of adenine to AMP. (medlineplus.gov)
  • BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). (lsh.is)
  • Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results in the generation and renal excretion of large amounts of the poorly soluble 2,8-dihydroxyadenine (DHA), causing kidney stones and crystal nephropathy which can progress to end-stage kidney disease (ESKD). (opinvisindi.is)
  • Partial deficiency of adenine phosphoribosyltransferase (APRT), the enzyme catalyzing the transport of the ribosylphosphate moiety of phosphoribosylpyrophosphate (PRPP) to adenine with formation of AMP, has only rarely been described (2,3,5-9), Complete deficiency of this enzyme was reported in only one patient (2). (fjmu.edu.cn)
  • Adenine phosphoribosyltransferase deficiency (APRT) deficiency appears to equally affect children and adults, male or female. (cdc.gov)
  • APRT deficiency is an autosomal recessive (AR) disorder caused by mutations in the APRT gene (16q24) encoding the APRT enzyme catalyzing AMP synthesis from adenine and 5'-phosphoribosyl-1-pyrophosphate. (cdc.gov)
  • Crystal structures of APRT from Francisella tularensis - an N-H···N hydrogen bond imparts adenine specificity in adenine phosporibosyltransferases. (expasy.org)
  • There are two types of phosphoribosyltransferases: adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT). (wikipedia.org)
  • Recipient genes to test exon size were the mouse metallothionein II (MT) gene driven by the Rous sarcoma virus enhancer-promoter and the complete, natural hamster adenine phosphoribosyl-transferase (APRT) gene driven by the APRT promoter. (pnas.org)
  • The concentrations of ATP, ADP, AMP, IMP and the activities of adenine phosphoribosyltransferase (APRT), hypoxanthine-guanine phosphoribosyltransferase (HGPRT) and phosphoribosyl pyrophosphate synthetase (PRPP-S) were determined in erythrocytes. (springer.com)
  • The Rare Kidney Stone Consortium's (RKSC) goals are to advance the understanding of disease expression and the factors associated with renal injury in primary hyperoxaluria (PH), enteric hyperoxaluria (EH), cystinuria, adenine phosphoribosyltransferase (APRT) deficiency and dent disease with the overall goals of developing new treatments directed at protecting renal function and reducing nephrocalcinosis and stone formation. (rarediseasesnetwork.org)
Hypoxanthine10
  • Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. (semanticscholar.org)
  • The mutants appeared to retain some A-PRT activity in crude extracts, and strains of the genotype ade2 aptl responded to both adenine and hypoxanthine. (microbiologyresearch.org)
  • Mutants deficient in adenine aminohydrolase (EC 3.5.4.2) activity, aahl , and hypoxanthine: guanine phosphoribosyltransferase (EC 2.4.2.8) activity, hptl , were used to synthesize the genotypes aptl hptl aah * and aptl hpt* aahl. (microbiologyresearch.org)
  • The absence of A-PRT activity 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. (microbiologyresearch.org)
  • Deficiencies of enzymes involved in the purine reutilization pathways mainly concern the hypoxanthine-guanine phosphoribosyltransferase (HGPRT), the clinical expression being the Lesch-Nyhan syndrome or eventually gout. (fjmu.edu.cn)
  • Besides adenine and adenosine, hypoxanthine (Hyp) is usually considered a major substrate of salvage pathways. (springer.com)
  • Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. (hmdb.ca)
  • Group 1: The patient may have deficiencies in hypoxanthine-guanine phosphoribosyltransferase (HGPRT), adenine phosphoribosyltransferase, or xanthine dehydrogenase enzymes. (medscape.com)
  • Wild-type cells incorporated labeled adenine, guanine, and hypoxanthine, whereas mutant strains varied in their ability to incorporate these bases. (asm.org)
  • Adenine, guanine, hypoxanthine, and xanthine were activated by phosphoribosyltransferase activities present in wild-type cell extracts. (asm.org)
Enzyme10
  • A lack of functional enzyme impairs the conversion of adenine to AMP. (medlineplus.gov)
  • The enzyme first binds PRPP, followed by adenine. (wikipedia.org)
  • Adenine phosphoribosyltransferase deficiency is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase. (wikipedia.org)
  • Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. (wikipedia.org)
  • Adenine phosphoribosyltransferase (APRTase) is a widely distributed enzyme, and its deficiency in humans causes the accumulation of 2,8-dihydroxyadenine. (rcsb.org)
  • This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). (antikoerper-online.de)
  • 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)
  • EC 2.4.2.7), which is a constitutively expressed enzyme involved in the one-step salvage of adenine to AMP. (mybiosource.com)
  • Total deficiency of adenine phosphoribosyltransferase was confirmed by direct measurements of the enzyme activity in lysed red blood cells. (lsh.is)
  • Pre-B-cell colony-enhancing factor, whose expression is up-regulated in activated lymphocytes, is a nicotinamide phosphoribosyltransferase, a cytosolic enzyme involved in NAD biosynthesis. (nature.com)
Gene1
  • SUMMARY: Mutants of Saccharomyces cerevisiae deficient in adenine phosphoribosyltransferase (A-PRT, EC 2.4.2.7) have been isolated following selection for resistance to 8-azaadenine in a prototrophic strain carrying the ade4-su allele of the gene coding for amidophosphoribosyltransferase(EC 2.4.2.14). (microbiologyresearch.org)
Pathways2
  • When APRTase has reduced or nonexistent activity, adenine accumulates from other pathways. (wikipedia.org)
  • There are two pathways whereby AMP is synthesized in erythrocytes: from adenine and adenosine. (springer.com)
Nucleotides4
  • May contribute to the recycling of adenine into adenylate nucleotides and the inactivation of cytokinins by phosphoribosylation. (mybiosource.com)
  • Possesses low activity toward adenine, but can efficiently convert cytokinins from free bases (active form) to the corresponding nucleotides (inactive form). (mybiosource.com)
  • Adenine phosphoribosyltransferase is widely spread in nature, it is produced in bacteria and eukaryotes, participates in the alternative de novo synthesis of purine nucleotides. (creative-enzymes.com)
  • a nucleoside found among the hydrolysis products of all nucleic acids and of the various adenine nucleotides. (goutpal.com)
PRPP2
  • APRTase catalyzes the following reaction in the purine nucleotide salvage pathway: Adenine + Phosphoribosyl Pyrophosphate (PRPP) → Adenylate (AMP) + Pyrophosphate (PPi) In organisms that can synthesize purines de novo, the nucleotide salvage pathway provides an alternative that is energetically more efficient. (wikipedia.org)
  • Phosphoribosyltransferases add activated ribose-5-phosphate ( Phosphoribosyl pyrophosphate , PRPP) to bases, creating nucleoside monophosphates. (wikipedia.org)
Salvage3
  • It can salvage adenine from the polyamine biosynthetic pathway or from dietary sources of purines. (wikipedia.org)
  • Purine phosphoribosyltransferases, purine PRTs, are essential enzymes in the purine salvage pathway of living organisms. (universidadeuropea.es)
  • The salvage of adenine depends upon two sequential enzymatic reactions. (springer.com)
Kamatani1
  • 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)
Nucleoside2
  • A nucleoside that is composed of adenine and d-ribose. (drugbank.ca)
  • A phosphorylated nucleoside C 10 H 16 N 5 O 13 P 3 of adenine that supplies energy for many biochemical cellular processes by undergoing enzymatic hydrolysis (especially to adenosine diphosphate). (goutpal.com)
Pyrimidine1
  • Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. (antikoerper-online.de)
Nicotinamide Phosphoribosyltransferase1
  • Nicotinamide phosphoribosyltransferase (NAMPT) is a regulator of the intracellular nicotinamide adenine dinucleotide (NAD) pool. (nature.com)
Guanine1
  • 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 [1] . (wikibooks.org)
APRT21
  • 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. (universidadeuropea.es)
Phosphoribosyl Pyrophosphate1
  • Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate. (anticorps-enligne.fr)
Enzymes2
  • The hood, which contains the adenine binding site, has more variability within the family of enzymes. (wikipedia.org)
  • Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes. (yale.edu)
Renal5
  • 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)
Deaminase1
  • Adenine deaminase activity was detected at low levels. (asm.org)
Precursor1
  • precursor of nicotinamide adenine dinucleotide (NAD). (nature.com)
Urolithiasis1
  • Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (medlineplus.gov)
APRT gene: MedlinePlus Genetics
APRT gene: MedlinePlus Genetics (medlineplus.gov)
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis | PNAS
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis | PNAS (pnas.org)
5yw2.1 | SWISS-MODEL Template Library
5yw2.1 | SWISS-MODEL Template Library (swissmodel.expasy.org)
Kidney stone disease - Wikipedia
Kidney stone disease - Wikipedia (en.wikipedia.org)
Adenine phosphoribosyltransferase deficiency: MedlinePlus Genetics
Adenine phosphoribosyltransferase deficiency: MedlinePlus Genetics (medlineplus.gov)
Comparison of human erythrocyte purine nucleotide metabolism and blood purine and pyrimidine degradation product concentrations...
Comparison of human erythrocyte purine nucleotide metabolism and blood purine and pyrimidine degradation product concentrations... (link.springer.com)
Med Ed in the 21st Century by Daniel Lowenstein on Prezi
Med Ed in the 21st Century by Daniel Lowenstein on Prezi (prezi.com)
A - Genes - Genetics Home Reference - NIH
A - Genes - Genetics Home Reference - NIH (ghr.nlm.nih.gov)
KEGG PATHWAY: hsa00230
KEGG PATHWAY: hsa00230 (genome.jp)
Adenosine phosphate - DrugBank
Adenosine phosphate - DrugBank (drugbank.ca)
Dynamic transcriptome profiling of Bean Common Mosaic Virus (BCMV) infection in Common Bean (Phaseolus vulgaris L.) | BMC...
Dynamic transcriptome profiling of Bean Common Mosaic Virus (BCMV) infection in Common Bean (Phaseolus vulgaris L.) | BMC... (bmcgenomics.biomedcentral.com)
Frontiers | Stable Protein Sialylation in Physcomitrella | Plant Science
Frontiers | Stable Protein Sialylation in Physcomitrella | Plant Science (frontiersin.org)
Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese | Springer for Research ...
Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese | Springer for Research ... (rd.springer.com)
Long Term Model for Evaluation of Myocardial Metabolic Recovery following Global Ischemia | SpringerLink
Long Term Model for Evaluation of Myocardial Metabolic Recovery following Global Ischemia | SpringerLink (link.springer.com)
Characterization of a TL−variant of a homozygous TL+ mouse lymphoma | SpringerLink
Characterization of a TL−variant of a homozygous TL+ mouse lymphoma | SpringerLink (link.springer.com)
Guanosine-5'-Monophosphate - DrugBank
Guanosine-5'-Monophosphate - DrugBank (drugbank.ca)
Aspartic acid - DrugBank
Aspartic acid - DrugBank (drugbank.ca)
Physiological and pathophysiological roles of NAMPT and NAD metabolism | Nature Reviews Endocrinology
Physiological and pathophysiological roles of NAMPT and NAD metabolism | Nature Reviews Endocrinology (nature.com)
Optimization based automated curation of metabolic reconstructions | BMC Bioinformatics | Full Text
Optimization based automated curation of metabolic reconstructions | BMC Bioinformatics | Full Text (bmcbioinformatics.biomedcentral.com)
Purine Metabolism in Man-IV | SpringerLink
Purine Metabolism in Man-IV | SpringerLink (link.springer.com)
Ref - Hershey & Taylor 1986. Gene 43:287-293
Ref - Hershey & Taylor 1986. Gene 43:287-293 (cgsc.biology.yale.edu)