Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
Indian Journal of Urology, 2017 Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis ...
Pramod Krishnappa +2 more
doaj +4 more sources
Apt (Adenine Phosphoribosyltransferase) Mutation in Laboratory-Selected Vancomycin-Intermediate Staphylococcus aureus [PDF]
Antibiotics, 2021 Comparative genomic sequencing of laboratory-derived vancomycin-intermediate Staphylococcusaureus (VISA) (MM66-3 and MM66-4) revealed unique mutations in both MM66-3 (in apt and ssaA6), and MM66-4 (in apt and walK), compared to hetero-VISA parent strain ...
Reena Lamichhane-Khadka +6 more
doaj +3 more sources
Acyclic nucleoside phosphonates with adenine nucleobase inhibit Trypanosoma brucei adenine phosphoribosyltransferase in vitro [PDF]
Scientific Reports, 2021 All medically important unicellular protozoans cannot synthesize purines de novo and they entirely rely on the purine salvage pathway (PSP) for their nucleotide generation.
Eva Doleželová +6 more
doaj +3 more sources
LncR-GAS5 decrease in adenine phosphoribosyltransferase expresssion via binding TAF1 to increase kidney damage created by CIH [PDF]
HeliyonObjective: Chronic kidney disease (CKD) related to obstructive sleep apnea-hypopnea syndrome (OSAHS) mainly results from chronic intermittent hypoxia (CIH)-induced renal injury.
Wei Liu +6 more
doaj +3 more sources
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. [PDF]
Am J Kidney Dis, 2016 Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency.An observational cohort study.All ...
Runolfsdottir HL +4 more
europepmc +5 more sources
Saudi Journal of Kidney Diseases and Transplantation, 2019 Adenine phosphoribosyltransferase deficiency is an inherited condition presenting from infancy to late adulthood. The common features are recurrent kidney and urinary tract stones and obstructive symptoms. The stones are characteristically radiolucent. 2,
Mital Dipakkkumar Parikh +2 more
doaj +3 more sources
A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment. [PDF]
CEN Case Rep, 2023 Kunou M +13 more
europepmc +3 more sources
Characterization of adenine phosphoribosyltransferase (APRT) activity in Trypanosoma brucei brucei: Only one of the two isoforms is kinetically active. [PDF]
PLoS Negl Trop Dis, 2022 Glockzin K, Meek TD, Katzfuss A.
europepmc +3 more sources
Adenine Phosphoribosyltransferase Mutants in Saccharomyces cerevisiae [PDF]
Microbiology, 1984 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). The mutants were recessive and defined a single gene, apt1.
R A, Woods +3 more
openaire +3 more sources
Altered nicotinamide adenine dinucleotide metabolism drives cartilage degeneration and osteoarthritis [PDF]
Clinical and Translational Medicine, Volume 15, Issue 11, November 2025.PARP14 is upregulated in OA cartilage and contributes to NAD⁺ depletion. PARP14 silencing restores NAD⁺ levels and represses OA‐related metabolic and matrix‐degrading changes. NAD⁺ precursor treatment and NMNAT1 overexpression protect against cartilage degeneration in aging and post‐traumatic OA models.
Xiaoxin Wu +12 more
wiley +2 more sources