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Information on EC 2.4.2.7 - adenine phosphoribosyltransferase
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2.4.2.7 adenine phosphoribosyltransferaseIUBMB Comments
5-Amino-4-imidazolecarboxamide can replace adenine.
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Word Map
- 2.4.2.7
- purine
- hamster
- hypoxanthine
-
salvage
-
2,8-dihydroxyadenine
- ovary
- erythrocyte
-
hypoxanthine-guanine
- nucleoside
- stone
- guanine
- urolithiasis
- allopurinol
- deaminase
- xanthine
- hgprt
-
heterozygosity
- inosine
-
uric
- lesch-nyhan
- nephrolithiasis
-
hemizygous
- 2,6-diaminopurine
- phosphoribosyltransferases
- imp
-
5-phosphoribosyl-1-pyrophosphate
- gout
-
radiolucent
- calculi
-
transversions
-
crystalluria
-
hprt-deficient
-
repair-deficient
- lithiasis
- hgprtase
- synthesis
- drug development
-
hemolysates
-
3.5.4.4
-
repair-proficient
-
2.7.1.20
- medicine
The enzyme appears in viruses and cellular organisms
Synonyms
aprt, adenine phosphoribosyltransferase, adenine phosphoribosyl transferase, aprtase, gpt-1, adenosine phosphoribosyltransferase, amp pyrophosphorylase, haprt, aprth, aprt1, 
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
adenine phosphoribosylpyrophosphate transferase
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adenosine phosphoribosyltransferase
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-
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adenylate pyrophosphorylase
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adenylic pyrophosphorylase
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-
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AMP pyrophosphorylase
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-
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AMP-pyrophosphate phosphoribosyltransferase
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AMP:pyrophosphate phospho-D-ribosyltransferase
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APRT
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phosphoribosyltransferase, adenine
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transphosphoribosidase
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additional information
structure analysis: different paths for adenine relative to other purine PRTases
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REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT
LITERATURE
AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate
mechanism
AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate
forward reaction follows a random bi-bi mechanism
AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate
active site structure
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
pentosyl group transfer
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-
-
-
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SYSTEMATIC NAME
IUBMB Comments
AMP:diphosphate phospho-D-ribosyltransferase
5-Amino-4-imidazolecarboxamide can replace adenine.
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CAS REGISTRY NUMBER
COMMENTARY
9027-80-9
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
adenine + 5-phospho-alpha-D-ribose 1-diphosphate
AMP + diphosphate
-
ordered substrate binding in the reverse reaction with AMP bound first followed by diphosphate
r
adenine + 5-phospho-alpha-D-ribose 1-diphosphate
AMP + diphosphate
substrate binding structure
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r
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METALS and IONS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
Mg2+
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INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
diphosphate
noncompetitive against 5-phospho-alpha-D-ribose 1-diphosphate
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
5'-nucleotidase deficiency
Inborn errors of purine metabolism: clinical update and therapies.
Acidosis
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Acidosis, Renal Tubular
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Acute Kidney Injury
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.
adenine phosphoribosyltransferase deficiency
2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature.
adenine phosphoribosyltransferase deficiency
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
adenine phosphoribosyltransferase deficiency
2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney.
adenine phosphoribosyltransferase deficiency
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
adenine phosphoribosyltransferase deficiency
2,8-Dihydroxyadenine renal stones in a 41-year-old man.
adenine phosphoribosyltransferase deficiency
2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
adenine phosphoribosyltransferase deficiency
2,8-dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
adenine phosphoribosyltransferase deficiency
2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.
adenine phosphoribosyltransferase deficiency
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
adenine phosphoribosyltransferase deficiency
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis.
adenine phosphoribosyltransferase deficiency
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
adenine phosphoribosyltransferase deficiency
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
adenine phosphoribosyltransferase deficiency
A Rare Case of APRT Deficiency with End-stage Renal Failure and Successful Renal Transplant.
adenine phosphoribosyltransferase deficiency
A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency as a cause of renal failure.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
adenine phosphoribosyltransferase deficiency
Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.
adenine phosphoribosyltransferase deficiency
Adenine Phosphoribosyltransferase Deficiency in a Chinese Man with Early-onset Gout.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency in a female with gout.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency in children.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency in cultured mouse mammary tumor FM3A cells resistant to 4-carbamoylimidazolium 5-olate.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency in Iceland.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.
adenine phosphoribosyltransferase deficiency
Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.
adenine phosphoribosyltransferase deficiency
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: a simple diagnostic test.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.
adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency: report of a second family.
adenine phosphoribosyltransferase deficiency
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Allelic losses in mutations at the aprt locus of human lymphoblastoid cells.
adenine phosphoribosyltransferase deficiency
Altered kinetic properties of a mutant adenine phosphoribosyltransferase.
adenine phosphoribosyltransferase deficiency
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
adenine phosphoribosyltransferase deficiency
An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.
adenine phosphoribosyltransferase deficiency
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
APRT deficiency: the need for early diagnosis.
adenine phosphoribosyltransferase deficiency
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
adenine phosphoribosyltransferase deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
adenine phosphoribosyltransferase deficiency
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
adenine phosphoribosyltransferase deficiency
Characterization of an adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.
adenine phosphoribosyltransferase deficiency
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
adenine phosphoribosyltransferase deficiency
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.
adenine phosphoribosyltransferase deficiency
Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.
adenine phosphoribosyltransferase deficiency
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
adenine phosphoribosyltransferase deficiency
Common altered characteristics of mutant enzymes from patients with Japanese type APRT deficiencies.
adenine phosphoribosyltransferase deficiency
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
adenine phosphoribosyltransferase deficiency
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.
adenine phosphoribosyltransferase deficiency
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
adenine phosphoribosyltransferase deficiency
Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
adenine phosphoribosyltransferase deficiency
Complete deficiency of adenine phosphoribosyltransferase. Report of a family.
adenine phosphoribosyltransferase deficiency
Complete deficiency of adenine phosphoribosyltransferase: a report of three cases and immunologic and phagocytic investigations.
adenine phosphoribosyltransferase deficiency
Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.
adenine phosphoribosyltransferase deficiency
Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani.
adenine phosphoribosyltransferase deficiency
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
adenine phosphoribosyltransferase deficiency
Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.
adenine phosphoribosyltransferase deficiency
Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant.
adenine phosphoribosyltransferase deficiency
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
adenine phosphoribosyltransferase deficiency
Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system.
adenine phosphoribosyltransferase deficiency
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method.
adenine phosphoribosyltransferase deficiency
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.
adenine phosphoribosyltransferase deficiency
Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.
adenine phosphoribosyltransferase deficiency
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.
adenine phosphoribosyltransferase deficiency
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
adenine phosphoribosyltransferase deficiency
Embryonic stem cells and somatic cells differ in mutation frequency and type.
adenine phosphoribosyltransferase deficiency
Erythrocyte adenine PRPP availability in two types of APRT deficiency using silicon oil method.
adenine phosphoribosyltransferase deficiency
Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.
adenine phosphoribosyltransferase deficiency
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells.
adenine phosphoribosyltransferase deficiency
Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).
adenine phosphoribosyltransferase deficiency
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
adenine phosphoribosyltransferase deficiency
Febuxostat in adenosine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies.
adenine phosphoribosyltransferase deficiency
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
adenine phosphoribosyltransferase deficiency
Gout with adenine phosphoribosyl transferase deficiency.
adenine phosphoribosyltransferase deficiency
Gout, uric acid and purine metabolism in paediatric nephrology.
adenine phosphoribosyltransferase deficiency
Hereditary causes of kidney stones and chronic kidney disease.
adenine phosphoribosyltransferase deficiency
HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
adenine phosphoribosyltransferase deficiency
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
adenine phosphoribosyltransferase deficiency
Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
adenine phosphoribosyltransferase deficiency
Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
adenine phosphoribosyltransferase deficiency
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
adenine phosphoribosyltransferase deficiency
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.
adenine phosphoribosyltransferase deficiency
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
adenine phosphoribosyltransferase deficiency
Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus.
adenine phosphoribosyltransferase deficiency
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
adenine phosphoribosyltransferase deficiency
Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
adenine phosphoribosyltransferase deficiency
Kidney transplantation in a patient with severe adenine phosphoribosyl transferase deficiency: obstacles and pitfalls.
adenine phosphoribosyltransferase deficiency
Long-term renal outcomes of APRT deficiency presenting in childhood.
adenine phosphoribosyltransferase deficiency
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
adenine phosphoribosyltransferase deficiency
Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice.
adenine phosphoribosyltransferase deficiency
Male sterility associated with APRT deficiency in Arabidopsis thaliana results from a mutation in the gene APT1.
adenine phosphoribosyltransferase deficiency
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Metabolic consequences of adenine-phosphoribosyl transferase deficiency in V79 hamster fibroblasts.
adenine phosphoribosyltransferase deficiency
Methylthioadenosine phosphorylase activity in human erythrocytes.
adenine phosphoribosyltransferase deficiency
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
adenine phosphoribosyltransferase deficiency
Minimum allopurinol dose for adenine phosphoribosyl transferase deficiency.
adenine phosphoribosyltransferase deficiency
Molecular analysis of APRT deficiency in mouse P19 teratocarcinoma stem cell line.
adenine phosphoribosyltransferase deficiency
Mutational basis of adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
adenine phosphoribosyltransferase deficiency
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
adenine phosphoribosyltransferase deficiency
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.
adenine phosphoribosyltransferase deficiency
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.
adenine phosphoribosyltransferase deficiency
Progressive renal dysfunction and macrophage infiltration in interstitial fibrosis in an adenine-induced tubulointerstitial nephritis mouse model.
adenine phosphoribosyltransferase deficiency
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Purine enzyme defects as a cause of acute renal failure in childhood.
adenine phosphoribosyltransferase deficiency
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy.
adenine phosphoribosyltransferase deficiency
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.
adenine phosphoribosyltransferase deficiency
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
adenine phosphoribosyltransferase deficiency
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
adenine phosphoribosyltransferase deficiency
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
adenine phosphoribosyltransferase deficiency
Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.
adenine phosphoribosyltransferase deficiency
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
adenine phosphoribosyltransferase deficiency
Role of the mismatch repair gene, Msh6, in suppressing genome instability and radiation-induced mutations.
adenine phosphoribosyltransferase deficiency
Search for the mechanisms of high incidence of APRT deficiency among Japanese.
adenine phosphoribosyltransferase deficiency
Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase.
adenine phosphoribosyltransferase deficiency
Similarity of in vivo somatic mutations at an autosomal adenine phosphoribosyltransferase locus between T- and B-cells in human peripheral blood.
adenine phosphoribosyltransferase deficiency
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
adenine phosphoribosyltransferase deficiency
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
adenine phosphoribosyltransferase deficiency
Spontaneous and ionizing radiation induced mutations involve large events when selecting for loss of an autosomal locus.
adenine phosphoribosyltransferase deficiency
Substrate specificity of human deoxycytidine kinase toward antiviral 2',3'-dideoxynucleoside analogs.
adenine phosphoribosyltransferase deficiency
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.
adenine phosphoribosyltransferase deficiency
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
adenine phosphoribosyltransferase deficiency
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
adenine phosphoribosyltransferase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
adenine phosphoribosyltransferase deficiency
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
adenine phosphoribosyltransferase deficiency
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
adenine phosphoribosyltransferase deficiency
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
adenine phosphoribosyltransferase deficiency
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
adenine phosphoribosyltransferase deficiency
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
adenine phosphoribosyltransferase deficiency
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]
adenine phosphoribosyltransferase deficiency
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]
adenine phosphoribosyltransferase deficiency
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]
adenine phosphoribosyltransferase deficiency
[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy]
adenine phosphoribosyltransferase deficiency
[2,8-dihydroxyadenine urolithiasis. Case report and literature review.]
adenine phosphoribosyltransferase deficiency
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]
adenine phosphoribosyltransferase deficiency
[A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency].
adenine phosphoribosyltransferase deficiency
[A case of lithiasis caused by 2,8 dihydroxyadenine. Evolutive characteristics. Therapeutic problems]
adenine phosphoribosyltransferase deficiency
[A Case Report of 2,8-Dihydroxyadenine Stone].
adenine phosphoribosyltransferase deficiency
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]
adenine phosphoribosyltransferase deficiency
[Adenine phosphoribosyltransferase deficiency]
adenine phosphoribosyltransferase deficiency
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]
adenine phosphoribosyltransferase deficiency
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]
adenine phosphoribosyltransferase deficiency
[Determination and significance of adenine in the urine and the serum of a patient with congenital adenine phosphoribosyltransferase deficiency]
adenine phosphoribosyltransferase deficiency
[From clinical tests to etiology: analysis of clinical features. Adenine phosphoribosyltransferase deficiency]
adenine phosphoribosyltransferase deficiency
[Genotype and genetic diagnosis of APRT deficiency]
adenine phosphoribosyltransferase deficiency
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]
adenine phosphoribosyltransferase deficiency
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]
adenine phosphoribosyltransferase deficiency
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
adenine phosphoribosyltransferase deficiency
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
adenine phosphoribosyltransferase deficiency
[Uric acid stones in children. Identification and therapy of a newly detected defect of adenine-phosphoribosyltransferase (author's transl)]
adenosine deaminase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
adenylosuccinate lyase deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Alopecia
No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine.
Anemia, Sideroblastic
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]
Arthritis, Gouty
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.
Arthritis, Gouty
[Investigation of a variant form of hypoxanthine-phosphoribosyl transferase in a family (author's transl)]
Bartter Syndrome
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Breast Neoplasms
Proteomic analysis of human macrophages exposed to hypochlorite-oxidized low-density lipoprotein.
Breast Neoplasms
Search for novel proteins involved in the development of chemoresistance in colorectal cancer and fibrosarcoma cells in vitro using two-dimensional electrophoresis, mass spectrometry and microsequencing.
Carcinogenesis
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Carcinoma
Purification and characterization of adenine phosphoribosyltransferase from mouse mammary carcinoma FM3A cells in culture.
Carcinoma, Bronchogenic
Purine metabolizing enzymes in lymphocytes from patients with solid tumors.
Carcinoma, Ehrlich Tumor
Purification and properties of adenylate pyrophosphorylase from Ehrlich ascites tumor cells.
Carcinoma, Embryonal
A role for certain mouse Aprt sequences in resistance to toxic adenine analogs.
Carcinoma, Embryonal
Aberrantly Silenced Promoters Retain a Persistent Memory of the Silenced State After Long-Term Reactivation.
Carcinoma, Embryonal
At least two distinct epigenetic mechanisms are correlated with high-frequency "switching" for APRT phenotypic expression in mouse embryonal carcinoma stem cells.
Carcinoma, Embryonal
Hemidemethylation is sufficient for chromatin relaxation and transcriptional activation of methylated aprt gene in mouse P19 embryonal carcinoma cell line.
Carcinoma, Embryonal
Molecular and biochemical elucidation of a cellular phenotype characterized by adenine analogue resistance in the presence of high levels of adenine phosphoribosyltransferase activity.
Carcinoma, Hepatocellular
Direct selection of hepatoma cell variants deficient in alpha 1-antitrypsin gene expression.
Carcinoma, Hepatocellular
Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues.
Carcinoma, Ovarian Epithelial
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
Carcinoma, Ovarian Epithelial
Treatment of early epithelial ovarian cancer with chemotherapy and abdominopelvic radiotherapy: results of a prospective treatment protocol.
Coloboma
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Colorectal Neoplasms
Deletion mapping of highly conserved transcribed sequence downstream from APRT locus.
Colorectal Neoplasms
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Colorectal Neoplasms
Multiple dispersed spontaneous mutations: a novel pathway of mutation in a malignant human cell line.
Colorectal Neoplasms
Search for novel proteins involved in the development of chemoresistance in colorectal cancer and fibrosarcoma cells in vitro using two-dimensional electrophoresis, mass spectrometry and microsequencing.
Corneal Dystrophies, Hereditary
Corneal dystrophy and total adenine phosphoribosyltransferase (APRT) deficiency.
Cystic Fibrosis
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
Cystinosis
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Cystinuria
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Deglutition Disorders
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Dent Disease
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Dermatitis
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
dihydropyrimidinase deficiency
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
dihydropyrimidinase deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Dihydropyrimidine Dehydrogenase Deficiency
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
Dihydropyrimidine Dehydrogenase Deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Diphtheria
Cytotoxic and mutagenic properties of shale oil byproducts II. Comparison of mutagenic effects at five genetic markers induced by retort process water plus near ultraviolet light in Chinese hamster ovary cells.
Down Syndrome
Activities of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in erythrocytes from patients with Down's syndrome.
Down Syndrome
Erythrocyte adenosine deaminase, purine nucleoside phosphorylase and phosphoribosyltransferase activity in patients with Down's syndrome.
Dysgeusia
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Fabry Disease
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Fibrosarcoma
Single-base deletion induced by benzo[a]pyrene diol epoxide at the adenine phosphoribosyltransferase locus in human fibrosarcoma cell lines.
Genetic Diseases, Inborn
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
Genetic Diseases, Inborn
An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.
Genetic Diseases, Inborn
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
Genetic Diseases, Inborn
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]
Genetic Diseases, Inborn
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]
Genetic Diseases, Inborn
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Genetic Diseases, Inborn
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Giardiasis
Purification and characterization of guanine phosphoribosyltransferase from Giardia lamblia.
Gout
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.
Gout
Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.
Gout
Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout.
Hemophilia A
[Adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase of blood platelets in hereditary coagulopathies]
Herpes Simplex
Genetic linkage but independent expression of functional HSV-1 tk and mammalian aprt genes after cotransfer to L cells.
Hypercalcemia
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Hypercalcemia
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Hyperoxaluria, Primary
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Hyperoxaluria, Primary
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells.
Hyperoxaluria, Primary
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Hyperoxaluria, Primary
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
Hypersensitivity
Molecular mechanisms of mutagen hypersensitivity in adenine phosphoribosyl transferase-deficient Friend mouse erythroleukaemia cells.
hypoxanthine phosphoribosyltransferase deficiency
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography.
hypoxanthine phosphoribosyltransferase deficiency
Gout, uric acid and purine metabolism in paediatric nephrology.
hypoxanthine phosphoribosyltransferase deficiency
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
hypoxanthine phosphoribosyltransferase deficiency
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
hypoxanthine phosphoribosyltransferase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Infertility, Male
Cloning a second form of adenine phosphoribosyl transferase gene (TaAPT2) from wheat and analysis of its association with thermo-sensitive genic male sterility (TGMS).
Infertility, Male
Male sterility associated with APRT deficiency in Arabidopsis thaliana results from a mutation in the gene APT1.
Infertility, Male
[Fertility alteration of male sterile rice line annong S-1 and the expression of fertility related aprt gene]
Kidney Calculi
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Kidney Calculi
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Kidney Calculi
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
Kidney Calculi
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Kidney Calculi
Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity.
Kidney Calculi
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Kidney Calculi
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Kidney Calculi
Expression Profiling of Crystal-Induced Injury in Human Kidney Epithelial Cells.
Kidney Calculi
Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
Kidney Calculi
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Kidney Calculi
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
Kidney Calculi
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Kidney Calculi
[A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency].
Kidney Diseases
Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.
Kidney Diseases
Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
Kidney Diseases
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Kidney Diseases
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Kidney Diseases
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Kidney Failure, Chronic
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
Kidney Failure, Chronic
A Rare Case of APRT Deficiency with End-stage Renal Failure and Successful Renal Transplant.
Kidney Failure, Chronic
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Kidney Failure, Chronic
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Kidney Failure, Chronic
Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.
Kidney Failure, Chronic
Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies.
Kidney Failure, Chronic
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
Kidney Failure, Chronic
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Lesch-Nyhan Syndrome
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Effect of blood transfusion on activities of hypoxanthineguanine phosphoribosyltransferase (E.C.2.4.2.8.) and adenine phosphoribosyltransferase (E.C.2.4.2.7.) in cirulating red blood cells of a patient with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo.
Lesch-Nyhan Syndrome
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Lesch-Nyhan Syndrome
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
Lesch-Nyhan Syndrome
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Resistance of erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome to destabilization to heat by hypoxanthine.
Lesch-Nyhan Syndrome
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
Lesch-Nyhan Syndrome
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Lesch-Nyhan Syndrome
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]
Leukemia
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Leukemia, Lymphocytic, Chronic, B-Cell
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Leukemia, Lymphocytic, Chronic, B-Cell
Enzymological studies in chronic lymphocytic leukemia.
Lung Neoplasms
Effect of TEI-6720, a xanthine oxidase inhibitor, on the nucleoside transport in the lung cancer cell line A549.
Lung Neoplasms
Non-small-cell lung cancer cell lines A549 and NCI-H460 express hypoxanthine guanine phosphoribosyltransferase on the plasma membrane.
Lymphoma
Isolation and characterization of mutants at the APRT locus in the L-5178Y TK+/TK- mouse lymphoma cell line.
Malaria
Characterization of adenine phosphoribosyltransferase from the human malaria parasite, Plasmodium falciparum.
Malnutrition
Effect of undernutrition on some enzymes involved in the salvage pathway of purine nucleotides in different regions of developing rat brain.
Medullary Sponge Kidney
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Metabolic Diseases
[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]
Mucopolysaccharidosis IV
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Mucositis
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Myotonic Dystrophy
Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells.
n-acetylgalactosamine-6-sulfatase deficiency
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Nasopharyngeal Neoplasms
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
Neoplasms
A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.
Neoplasms
Adenine phosphoribosyltransferase activities of mouse ascites tumors and derived tumorigenic and nontumorigenic tissue culyures.
Neoplasms
Adenine phosphoribosyltransferase deficiency in cultured mouse mammary tumor FM3A cells resistant to 4-carbamoylimidazolium 5-olate.
Neoplasms
APRT: a versatile in vivo resident reporter of local mutation and loss of heterozygosity.
Neoplasms
Assays to predict the genotoxicity of the chromosomal mutagen etoposide -- focussing on the best assay.
Neoplasms
Chromosomal assignment of seven genes on canine chromosomes by fluorescence in situ hybridization.
Neoplasms
Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.
Neoplasms
Configuration of a scintillation proximity assay for the activity assessment of recombinant human adenine phosphoribosyltransferase.
Neoplasms
Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells.
Neoplasms
DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice.
Neoplasms
Effect of expression of adenine phosphoribosyltransferase on the in vivo anti-tumor activity of prodrugs activated by E. coli purine nucleoside phosphorylase.
Neoplasms
Failure of the phorbol ester 12-O-tetradecanoylphorbol-13-acetate to enhance sister chromatid exchange, mitotic segregation, or expression of mutations in Chinese hamster cells.
Neoplasms
Helical tomotherapy versus conventional radiation to deliver abdominopelvic radiation.
Neoplasms
In-silico gene essentiality analysis of polyamine biosynthesis reveals APRT as a potential target in cancer.
Neoplasms
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Neoplasms
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Neoplasms
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Neoplasms
Multiple dispersed spontaneous mutations: a novel pathway of mutation in a malignant human cell line.
Neoplasms
Nuclear translocation of ?-catenin during mesenchymal stem cells differentiation into hepatocytes is associated with a tumoral phenotype.
Neoplasms
Purification and characterization of adenine phosphoribosyltransferase from mouse mammary carcinoma FM3A cells in culture.
Neoplasms
Purification and properties of adenylate pyrophosphorylase from Ehrlich ascites tumor cells.
Neoplasms
Purine-phosphoribosyltransferase activities in rat and mouse tissues and in Ehrlich ascites-tumour cells.
Neoplasms
Twice-daily, split-course abdominopelvic radiation therapy after chemotherapy and positive second-look laparotomy for epithelial ovarian carcinoma.
Nephritis, Hereditary
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Nephritis, Interstitial
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Nephritis, Interstitial
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Nephrolithiasis
2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney.
Nephrolithiasis
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Nephrolithiasis
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Nephrolithiasis
Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis.
Nephrolithiasis
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
Nephrolithiasis
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Nephrolithiasis
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
Nephrolithiasis
Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant.
Nephrolithiasis
Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis.
Nephrolithiasis
Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease.
Nephrolithiasis
Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells.
Nephrolithiasis
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
Nephrolithiasis
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Nephrolithiasis
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.
Nephrolithiasis
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Neutropenia
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
ornithine carbamoyltransferase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Ornithine Carbamoyltransferase Deficiency Disease
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
orotidine-5'-phosphate decarboxylase deficiency
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.
Ovarian Neoplasms
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
Ovarian Neoplasms
Results of post-operative abdomino-pelvic radiotherapy in intermediate- and high-risk epithelial ovarian carcinoma.
Ovarian Neoplasms
Treatment of early epithelial ovarian cancer with chemotherapy and abdominopelvic radiotherapy: results of a prospective treatment protocol.
phosphatidylcholine-sterol o-acyltransferase deficiency
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
purine-nucleoside phosphorylase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
purine-nucleoside phosphorylase deficiency
[Escherichia coli K-12 mutants assimilating adenine via a new metabolic pathway]
purine-nucleoside phosphorylase deficiency
[Escherichia coli K-12 mutants capable of catabolizing purine nucleosides in the absence of purine nucleoside phosphorylase]
Renal Insufficiency
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
Renal Insufficiency
2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States.
Renal Insufficiency
Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.
Renal Insufficiency
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Renal Insufficiency
Adenine phosphoribosyltransferase deficiency as a cause of renal failure.
Renal Insufficiency
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.
Renal Insufficiency
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
Renal Insufficiency
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Renal Insufficiency
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.
Renal Insufficiency
Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.
Renal Insufficiency
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
Renal Insufficiency
Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.
Renal Insufficiency
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.
Renal Insufficiency
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Renal Insufficiency
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Renal Insufficiency
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Renal Insufficiency
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
Renal Insufficiency
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]
Renal Insufficiency
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Renal Insufficiency
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Renal Insufficiency, Chronic
2,8-dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Renal Insufficiency, Chronic
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Renal Insufficiency, Chronic
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report?.
Renal Insufficiency, Chronic
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Renal Insufficiency, Chronic
Hereditary causes of kidney stones and chronic kidney disease.
Renal Insufficiency, Chronic
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Renal Insufficiency, Chronic
Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
Renal Insufficiency, Chronic
Long-term renal outcomes of APRT deficiency presenting in childhood.
Renal Insufficiency, Chronic
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Renal Insufficiency, Chronic
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Renal Insufficiency, Chronic
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.
Renal Insufficiency, Chronic
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Retinoblastoma
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Sarcoma
Sodium butyrate selectively induces transcription of promoters adjacent to the MoMSV viral enhancer.
Sarcoma
Transcriptional activation of the adenine phosphoribosyltransferase promoter by an upstream butyrate-induced Moloney murine sarcoma virus enhancer-promoter element.
Sarcoma
Transduction of the CHO aprt gene into mouse L cells using an adeno-5/APRT recombinant virus.
Sarcoma 180
5-Iodoribose 1-phosphate, an analog of ribose 1-phosphate. Enzymatic synthesis and kinetic studies with enzymes of purine, pyrimidine, and sugar phosphate metabolism.
Sarcoma, Avian
CpG island protects Rous sarcoma virus-derived vectors integrated into nonpermissive cells from DNA methylation and transcriptional suppression.
Sarcoma, Avian
Purification and physiochemical properties of a recombinant bovine growth hormone produced by cultured murine fibroblasts.
Seminoma
Testicular seminoma: Scattered radiation dose to the contralateral testis in the modern era.
Skin Diseases
Reference gene screening of Batrachochytrium dendrobatidis and Batrachochytrium salamandrivorans for quantitative real-time PCR studies.
Skin Neoplasms
Significance of CpG methylation for solar UV-induced mutagenesis and carcinogenesis in skin.
Starvation
The control of cell proliferation by preformed purines: a genetic study. I. Isolation and preliminary characterization of Chinese hamster lines with single or multiple defects in purine "salvage" pathways.
Teratocarcinoma
Allelic variation linked to adenine phosphoribosyltransferase locus in mouse teratocarcinoma cell line and feral-derived mouse strains.
Teratocarcinoma
Differentiation alters the unstable expression of adenine phosphoribosyltransferase in mouse teratocarcinoma cells.
Teratocarcinoma
High frequency "switching" at the adenine phosphoribosyltransferase locus in multipotent mouse teratocarcinoma stem cells.
Teratocarcinoma
Methylation of mouse adenine phosphoribosyltransferase gene is altered upon cellular differentiation and loss of phenotypic expression.
Teratocarcinoma
Molecular analysis of APRT deficiency in mouse P19 teratocarcinoma stem cell line.
Teratocarcinoma
Mouse teratocarcinoma mutant clones deficient in adenine phosphoribosyltransferase and developmentally pluripotent.
Thrombocytopenia
Consolidative abdominopelvic radiotherapy after surgery and carboplatin/paclitaxel chemotherapy for epithelial ovarian cancer.
Tourette Syndrome
Hypoxanthine guanine phosphoribosyltransferase (HGPRT) in Gilles de la Tourette syndrome.
Ureterolithiasis
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
Urinary Bladder Calculi
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
Urinary Calculi
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Urinary Calculi
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]
Urolithiasis
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
Urolithiasis
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
Urolithiasis
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
Urolithiasis
2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States.
Urolithiasis
2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.
Urolithiasis
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
Urolithiasis
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis.
Urolithiasis
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.
Urolithiasis
A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis.
Urolithiasis
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
Urolithiasis
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Urolithiasis
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.
Urolithiasis
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Urolithiasis
Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Urolithiasis
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis.
Urolithiasis
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
Urolithiasis
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
Urolithiasis
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
Urolithiasis
Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.
Urolithiasis
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
Urolithiasis
Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
Urolithiasis
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
Urolithiasis
Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.
Urolithiasis
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.
Urolithiasis
Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase.
Urolithiasis
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Urolithiasis
Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.
Urolithiasis
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.
Urolithiasis
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Urolithiasis
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
Urolithiasis
Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.
Urolithiasis
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Urolithiasis
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
Urolithiasis
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
Urolithiasis
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.
Urolithiasis
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.
Urolithiasis
Re: Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Urolithiasis
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Urolithiasis
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase.
Urolithiasis
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
Urolithiasis
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]
Urolithiasis
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]
Urolithiasis
[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]
Urolithiasis
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]
Urolithiasis
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]
Urolithiasis
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]
Urolithiasis
[Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)]
Werner Syndrome
Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients.
xanthine oxidase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Xerostomia
An evaluation of concordance between head and neck advanced practice radiation therapist and radiation oncologists in toxicity assessment for nasopharyngeal carcinoma patients.
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KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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TURNOVER NUMBER [1/s]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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Ki VALUE [mM]
INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
additional information
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ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
PDB
SCOP
CATH
UNIPROT
ORGANISM
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SUBUNIT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
?
x * 20000-20370, recombinant His-tagged enzyme, SDS-PAGE and DNA sequence determination
additional information
additional information
three-dimensional structure, subunit structure
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CRYSTALLIZATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
enzyme, 10 mg/ml, in complex with 9-deazaadenine and sulfate or Mg-phosphoribosyldiphosphate, 50 mM Hepes, pH 6.0, 8 mM MgCl2, 1 mM DTT, 1:2 molar ratio of 9-deazaadenine and iminoribitol, 1 mM sodium diphosphate, after 45 min incubation preparation of crystallization drops, crystals are obtained from mother liquid 0.1 M sodium acetate, pH 4.6, 24% polyethylene glycol 4000, 0.2 M ammonium sulfate, 0.05 M urea, 18°C, X-ray diffraction structure analysis, hydrogen bond network in the complexes
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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
F25W
site-directed mutagenesis, tryptophan at the adenine binding site, kinetic constants similar to the wild-type
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PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
cloning and DNA sequence determination, expression in Escherichia coli BL21 cells as C-terminally His-tagged protein
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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Sarver, A.E.; Wang, C.C.
The adenine phosphoribosyltransferase from Giardia lamblia has a unique reaction mechanism and unusual substrate binding properties
J. Biol. Chem.
277
39973-39980
2002
Giardia intestinalis (Q967M2), Giardia intestinalis
brenda
Shi, W.; Sarver, A.E.; Wang, C.C.; Tanaka, K.S.; Almo, S.C.; Schramm, V.L.
Closed site complexes of adenine phosphoribosyltransferase from Giardia lamblia reveal a mechanism of ribosyl migration
J. Biol. Chem.
277
39981-39988
2002
Giardia intestinalis (Q967M2), Giardia intestinalis
brenda
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Release 2023.1 (January 2023)
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