Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.2.7 (
adenine phosphoribosyltransferase
)
692
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
APRT deficiency may be totally benign or life threatening. The importance of early recognition/diagnosis is thus stressed. Urolithiasis (2,8-DHA stones: the precipitating factor in all cases) is treatable. With early recognition and treatment allopurinol without alkali and a diet low in purine homozygotes have remained clinically and biochemically normal to date. '
Uric acid
' stones in children must always be suspect and subjected to sophisticated analysis. Diagnosis from red cell
APRT
activity may also have its pitfalls.
...
PMID:Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. 742 54
Uric acid
(UA) is the end product of the catabolism of purines, and its serum levels are commonly increased in cancer patients. We aimed to explore the transcriptional regulation of tumour uricogenesis in human tumours, and relate uricogenesis with tumour pathological and pharmacological findings. Using data from The Cancer Genome Atlas (TCGA), we analysed the expression levels of xanthine dehydrogenase (XDH) and
adenine phosphoribosyltransferase
(
APRT
), two key enzymes in UA production and the purine salvage pathway, respectively. We found large differences between tumour types and individual tumours in their expression of
XDH
and
APRT
Variations in locus-specific DNA methylation and gene copy number correlated with the expression levels of
XDH
and
APRT
in human tumours respectively. We explored the consequences of this differential regulation of uricogenesis. Tumours with high levels of
XDH
mRNA were characterised by higher expression of several genes encoding pro-inflammatory and immune cytokines, and increased levels of tumour infiltration with immune cells. Finally, we studied cancer drug sensitivity using data from the National Cancer Institute-60 (NCI-60) database. A specific correlation was found between the expression levels of
APRT
and cell sensitivity to the chemotherapeutic agent 5-fluorouracil (5-FU). Our findings underline the existence of great differences in uricogenesis between different types of human tumours. The study of uricogenesis offers promising perspectives for the identification of clinically relevant molecular biomarkers and for tumour stratification in the therapeutic context.
...
PMID:A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates. 3010 1
