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 +6 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 +2 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 +2 more sources
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 +2 more sources
DNA-Mediated Transfer of the Adenine Phosphoribosyltransferase Locus into Mammalian Cells [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 1979 In this report, we demonstrate the feasibility of transforming mouse cells deficient in adenine phosphoribosyltransferase (aprt; AMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.7) to the aprt+ phenotype by means of DNA-mediated gene transfer ...
Wigler, M. H. +5 more
core +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 +2 more sources
Adenine Phosphoribosyltransferase Deficiency [PDF]
Clinical Journal of the American Society of Nephrology, 2012 Summary 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. The low solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones.
Guillaume, Bollée +5 more
openaire +3 more sources
Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation. [PDF]
Kidney Int Rep, 2019 Ceballos-Picot I +6 more
europepmc +4 more sources
Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression
Hepatology, EarlyView., 2022 Improved mitochondrial activity, due to the lack of methylation‐controlled J protein (MCJ), creates a specific microbiota signature that when transferred through cecal microbiota transplantation delays NASH progression by restoring the gut‐liver axis and enhancing hepatic fatty acid oxidation.
María Juárez‐Fernández +18 more
wiley +1 more source
It takes two to tango: NAD+ and sirtuins in aging/longevity control [PDF]
, 2016 The coupling of nicotinamide adenine dinucleotide (NAD+) breakdown and protein deacylation is a unique feature of the family of proteins called ‘sirtuins.’ This intimate connection between NAD+ and sirtuins has an ancient origin and provides a ...
Guarente, Leonard, Imai, Shin-ichiro
core +5 more sources