Results 11 to 20 of about 87,339 (215)

Resistance to 6-Methylpurine is Conferred by Defective Adenine Phosphoribosyltransferase in Tetrahymena. [PDF]

Genes (Basel), 2018
6-methylpurine (6mp) is a toxic analog of adenine that inhibits RNA and protein synthesis and interferes with adenine salvage mediated by adenine phosphoribosyltransferase (APRTase).
Akematsu T, Findlay A, Fukuda Y, Pearlman RE, Loidl J, Orias E, P Hamilton E.   +6 more
europepmc   +4 more sources

Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD. [PDF]

Kidney Int Rep, 2019
Li J, Shingde M, Nankivell BJ, Tchan MC, Bose B, Chapman JR, Kable K, Kim SK, Vucak-Dzumhur M, Wong G, Rangan GK.   +10 more
europepmc   +4 more sources

Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. [PDF]

Eur J Intern Med, 2018
Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R.   +8 more
europepmc   +4 more sources

Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation. [PDF]

Kidney Int Rep, 2019
Ceballos-Picot I, Saha A, Arora N, Kapoor K, Kaur M, Dhull RS, Goyal S.   +6 more
europepmc   +5 more sources

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. [PDF]

Clin Kidney J, 2016
Background Adenine phosphoribosyltransferase deficiency is an inborn error of metabolism that can cause kidney disease from crystalline nephropathy or kidney stones.
Balasubramaniam GS, Arenas-Hernandez M, Escuredo E, Fairbanks L, Marinaki T, Mapplebeck S, Sheaff M, Almond MK.   +7 more
europepmc   +4 more sources

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation. [PDF]

BMC Nephrol, 2014
BackgroundAdenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA).
Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.   +11 more
europepmc   +4 more sources

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. [PDF]

Eur J Hum Genet, 2021
Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease.
Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R.   +13 more
europepmc   +2 more sources

Extracellular nicotinamide phosphoribosyltransferase: role in disease pathophysiology and as a biomarker

Frontiers in Immunology, 2023
Nicotinamide phosphoribosyltransferase (NAMPT) plays a central role in mammalian cell metabolism by contributing to nicotinamide adenine dinucleotide biosynthesis. However, NAMPT activity is not limited to the intracellular compartment, as once secreted,
Elise Semerena, Alessio Nencioni, Alessio Nencioni, Krzysztof Masternak   +3 more
doaj   +2 more sources

Characterization of adenine phosphoribosyltransferase (APRT) activity in Trypanosoma brucei brucei : Only one of the two isoforms is kinetically active [PDF]

bioRxiv, 2021
Human African Trypanosomiasis (HAT), also known as sleeping sickness, is a Neglected Tropical Disease endemic to 36 African countries, with approximately 70 million people currently at risk for infection.
Kayla Glockzin, Thomas D. Meek, Ardala Katzfuss   +2 more
openalex   +2 more sources

Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency. [PDF]

Transplantation, 2020
Background. Adenine phosphoribosyltransferase (APRT) deficiency is a rare, hereditary cause of kidney stones and chronic kidney disease (CKD) which is characterized by 2,8-dihydroxyadenine renal parenchymal crystal deposition.
Runolfsdottir HL, Palsson R, Agustsdottir IMS, Indridason OS, Li J, Dao M, Knebelmann B, Milliner DS, Edvardsson VO.   +8 more
europepmc   +2 more sources