| 1 | APRT
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| Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
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| 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.
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| Eur J Hum Genet. Jul;29(7):1061-1070. doi: 10.1038/s41431-020-00805-6. Epub 2021 Mar 11. 2021
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| 2 | APRT
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| Long-term renal outcomes of APRT deficiency presenting in childhood.
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| Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO.
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| Pediatr Nephrol. Mar;34(3):435-442. doi: 10.1007/s00467-018-4109-x. Epub 2018 Nov 15. 2020
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| 3 | APRT
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| Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction
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| 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.
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| J Biol Chem. Aug 9;294(32):11980-11991. doi: 10.1074/jbc.RA119.009087. Epub 2019 Jun 3. 2019
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| 4 | APRT
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| Kidney Disease in Adenine Phosphoribosyltransferase Deficiency
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| Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO.
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| Am J Kidney Dis. 015 Dec Mar;67(3):431-8. doi: 10.1053/j.ajkd.2015.10.023. Epub 225. 2016
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| 5 | APRT
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| Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
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| Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.
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| BMC Nephrol. Jul 1;15:102. doi: 10.1186/1471-2369-15-102. 2014
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| 6 | APRT
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| Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
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| Silva CH, Silva M, Iulek J, Thiemann OH.
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| J Biomol Struct Dyn 25(6):589-97.
2008
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| 7 | APRT
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| 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.
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| Di Pietro V, Perruzza I, Amorini AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B, Tavazzi B.
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| Clin Biochem 40(1-2):73-80. Epub 2006 Oct 19.
2007
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| 8 | APRT
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| Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
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| Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N.
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| Nucleosides Nucleotides Nucleic Acids 23(8-9):1141-5. 2004
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| 9 | APRT
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| Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
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| Silva M, Silva CH, Iulek J, Thiemann OH.
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| Biochemistry 43(24):7663-71. 2004
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| 10 | APRT
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| APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.
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| Crespillo J, Llorente P, Argomaniz L, Montero C.
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| Mol Cell Biochem 254(1-2):359-63. 2003
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| 11 | APRT
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| 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of aprt.
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| Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A.
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| Mol Genet Metab 72(3):260-4. 2001
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| 12 | APRT
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| Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
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| Menardi C, Schneider R, Neuschmid-Kaspar F, Klocker H, Hirsch-Kauffmann M, Auer B, Schweiger M.
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| Hum Mutat 10(3):251-5. 1997
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| 13 | APRT
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| Deletion mapping of highly conserved transcribed sequence downstream from APRT locus.
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| Harwood J, et al.
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| Somat Cell Mol Genet 21 : 151-160. 1995
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| 14 | APRT
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| Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
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| Sahota A, et al.
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| Hum Mutat 3 : 315-317. 1994
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| 15 | APRT
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| Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
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| Sahota A, et al.
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| Hum Mol Genet 3 : 817-818. 1994
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| 16 | APRT
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| Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
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| Kamatani N, et al.
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| J Clin Invest 90 : 130-135. 1992
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| 17 | APRT
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| 2,8-dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
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| Sahota A, et al.
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| Am J Hum Genet 48 : 983-989. 1991
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| 18 | APRT
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| Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
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| Chen J, et al.
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| Am J Hum Genet 49 : 1306-1311. 1991
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| 19 | APRT
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| Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population.
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| Chen J, et al.
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| Am J Hum Genet 47 : A152. 1990
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| 20 | APRT
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| Identification of a common mutation in Japanese patients with type I adenine phosphoribosyltransferase (APRT) deficiency.
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| Sahota A, et al.
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| Am J Hum Genet 47 : A165. 1990
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| 21 | APRT
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| Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants): application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.
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| Kamatani N, et al.
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| Hum Genet 76 : 148-152. 1987
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| 22 | APRT
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| Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
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| Kamatani N, et al.
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| Hum Genet 75 : 163-168. 1987
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| 23 | APRT
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| A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23) (FRA16D) loci.
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| Fratini A, et al.
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| Cytogenet Cell Genet 43 : 10-13. 1986
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| 24 | APRT, NQO1
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| Further evidence for regional localization of human APRT and DIA4 on chromosome 16.
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| Lavinha J, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 517. 1984
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| 25 | APRT
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| Augmentation d'activitŽ de l'adŽnine phosphoribosyl transferase chez un enfant trisomique 16q22.2-16qter par translocation t(16;21)(q22.2;q22.2) pat.
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| RŽthorŽ MO, et al.
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| Ann Genet 25 : 36-42. 1982
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| 26 | APRT
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| The locus for human adenine phosphoribosyltransferase on chromosome 16.
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| Kahan B, et al.
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| Genetics 78 : 1143-1156. 1975
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| 27 | APRT
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| Gene dosage effect in human trisomy 16.
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| Marimo B, et al.
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| Nature 256 : 204-206. 1975
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| 28 | APRT
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| Assignment of a selectable gene: adenosine phosphoribosyltransferase to chromosome 16.
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| Tischfield JA, et al.
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| Cytogenet Cell Genet 13 : 167-172. 1974
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| 29 | APRT
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| Gout with adenine phosphoribosyltransferase deficiency.
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| Delbarre F, et al.
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| Biomedicine 21 : 82-85. 1974
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| 30 | APRT
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| Assignment of the gene for adenosine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.
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| Tischfield JA, et al.
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| Proc Natl Acad Sci U S A 71 : 45-49. 1974
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| 31 | APRT
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| Adenine phosphoribosyltransferase deficiency in man : report of a second family.
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| Fox IH, et al.
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| Am J Med 55 : 614-619. 1973
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