| Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma. | Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N., Free PMC Article | 02/14/2023 |
| Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. | Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
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., Free PMC Article | 03/12/2022 |
| binding to hAPRT is substrate shape-specific in the forward reaction, whereas it is base-specific in the reverse reaction. The forward reaction is mainly a nucleophilic substitution of type 2 (SN2) with a mix of SN1-type molecular mechanism. Based on our structural analysis, a magnesium-assisted SN2-type mechanism would be involved in the reverse reaction. | Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.
Ozeir M, Huyet J, Burgevin MC, Pinson B, Chesney F, Remy JM, Siddiqi AR, Lupoli R, Pinon G, Saint-Marc C, Gibert JF, Morales R, Ceballos-Picot I, Barouki R, Daignan-Fornier B, Olivier-Bandini A, Augé F, Nioche P., Free PMC Article | 03/21/2020 |
| 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 | A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.
Saidak Z, Louandre C, Dahmani S, Sauzay C, Guedda S, Chauffert B, Chatelain D, Ceballos-Picot I, Galmiche A., Free PMC Article | 05/18/2019 |
| A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance. | A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.
Hiramine S, Sugiyama M, Furusyo N, Uto H, Ido A, Tsubouchi H, Watanabe H, Ueno Y, Korenaga M, Murata K, Masaki N, Hayashi J, Thomas DL, Mizokami M., Free PMC Article | 08/13/2016 |
| A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency. | Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E., Free PMC Article | 04/4/2015 |
| Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals. | A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A. | 03/24/2012 |
| The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported. | The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.
Treharne KJ, Best OG, Mehta A., Free PMC Article | 01/21/2010 |
| Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate. | Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
Silva CH, Silva M, Iulek J, Thiemann OH. | 01/21/2010 |
| APRT assay in a sample of patient hemolysate showed no detectable activity of the enzyme (25.56+/-9.55 U/L red blood cells in control healthy subjects). | 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.
Di Pietro V, Perruzza I, Amorini AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B, Tavazzi B. | 01/21/2010 |
| kinetic, regulatory and thermostability properties of APRT from erythrocytes of HGPRT deficient patients | APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.
Crespillo J, Llorente P, Argomániz L, Montero C. | 01/21/2010 |
| determination of structure and examination of role of deficiency in DHA-urolithiasis | Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Silva M, Silva CH, Iulek J, Thiemann OH. | 01/21/2010 |
| two novel mutations, G133D and V84M, were found in the APRT gene in Japanese patients with APRT deficiency | Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N. | 01/21/2010 |