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Adenine phosphoribosyltransferase

Adenine Phosphoribosyltransferase, APRT
Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, Hypoxanthine Phosphoribosyltransferase, ACID, Cho
Papers on Adenine Phosphoribosyltransferase
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Edvardsson et al., Reykjavík, Iceland. In Am J Kidney Dis, Jan 2016
BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD).
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Ng et al., Singapore, Singapore. In World J Pediatr, Jan 2016
BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
Sun, Houston, United States. In Methods Mol Biol, Dec 2015
Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency), severe intellectual disability, and other neurological symptoms (Lesch-Nyhan disease, adenylosuccinase deficiency, and molybdenum cofactor deficiency).
[A Case Report of 2,8-Dihydroxyadenine Stone].
Koike et al., Niigata, Japan. In Hinyokika Kiyo, Jul 2015
A 2,8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency.
Effect of caffeine on the expression pattern of water-soluble proteins in rice (Oryza sativa) seedlings.
Ashihara et al., In Nat Prod Commun, May 2015
In contrast, up-regulated proteins were alanyl-aminopeptidase, acetyl-CoA carboxylase, adenine phosphoribosyltransferase, NAD-malate dehydrogenase, ornithine carbamoyltransferase, glucose-6-phosphate isomerase and nuclear RNA binding protein.
Activation of AMP-Activated Protein Kinase by Adenine Alleviates TNF-Alpha-Induced Inflammation in Human Umbilical Vein Endothelial Cells.
Chen et al., Taipei, Taiwan. In Plos One, 2014
These results suggested that the role of adenine as an AMPK activator is related to catabolism by APRT, which increases the cellular AMP levels to activate AMPK.
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Bollée et al., Paris, France. In Nucleosides Nucleotides Nucleic Acids, 2013
Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine.
Adenine Phosphoribosyltransferase Deficiency
Sahota et al., Seattle, United States. In Unknown Journal, 2012
CLINICAL CHARACTERISTICS: Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of 2,8-dihydroxyadenine (DHA), which is excreted in the urine, where it is poorly soluble and leads to kidney stone formation and chronic kidney disease (CKD).
Adenine phosphoribosyltransferase deficiency.
Ceballos-Picot et al., Paris, France. In Clin J Am Soc Nephrol, 2012
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine.
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Taniguchi et al., Tsukuba, Japan. In Acta Paediatr, 2011
Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals.
[2,8-dihydroxyadenine urolithiasis: case report and literature review].
Martinengo et al., Novara, Italy. In Urologia, 2011
INTRODUCTION: 2,8-Dihydroxyadenine (DHA) urolithiasis is a rare type of urinary stone disease secondary to deficiency of adenine phosphoribosyltransferase (APRT) activity, a rare, inherited autosomal recessive disease with an incidental rate from 0.4 to 1.2%.
Marked aneuploidy and loss of multiple chromosomes are common in autosomal mutants isolated from normal mouse kidney epithelium.
Turker et al., Portland, United States. In Genes Chromosomes Cancer, 2011
LOH on nonselected chromosomes was infrequent in Aprt mutants exhibiting intragenic events or mitotic recombination for chromosome 8
Aberrantly silenced promoters retain a persistent memory of the silenced state after long-term reactivation.
Turker et al., Portland, United States. In Mutat Res, 2011
Data shsow that despite continuous selection for expression of the reactivated Aprt alleles, exceptionally high spontaneous re-silencing frequencies were observed.
The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.
Mehta et al., Dundee, United Kingdom. In Mol Cell Biochem, 2009
The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported.
Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
Thiemann et al., São Carlos, Brazil. In J Biomol Struct Dyn, 2008
Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate.
DNA methylation represses transcription in vivo.
Cedar et al., Jerusalem, Israel. In Nat Genet, 1999
Sp1-like elements have a key role in protecting the CpG island of Aprt (encoding adenine phosphoribosyltransferase) from de novo methylation, and when these elements are specifically mutated, the Aprt CpG island becomes methylated in transgenic mice.
DNA demethylation in vitro: involvement of RNA.
Cedar et al., Jerusalem, Israel. In Cell, 1996
It is likely that this represents the in vivo mechanism, as well, since extracts from L8 myoblasts specifically demethylate an alpha-actin gene, while extracts from F9 teratocarcinoma cells specifically demodify the Aprt CpG island.
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Melton et al., Edinburgh, United Kingdom. In Nat Genet, 1993
We examined whether mice were more tolerant of HPRT deficiency because they were more reliant on adenine phosphoribosyltransferase (APRT) than HPRT for their purine salvage.
Purine resistant mutants of Drosophila are adenine phosphoribosyltransferase deficient.
Friedman et al., In Science, 1981
A deficiency for adenine phosphoribosyltransferase activity is the primary biochemical defect in mutants of Drosophila selected for resistance to purine-induced lethality.
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Wyngaarden et al., Brisbane, Australia. In Science, 1970
These two mothers also had reduced hypoxanthine-guanine phosphoribosyltransferase activity and increased adenine phosphoribosyltransferase activity in erythrocyte lysates.
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