Citations for
Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
Silva CH, Silva M, Iulek J, Thiemann OH.
J Biomol Struct Dyn 25(6):589-97. 2008
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.
Clin Biochem 40(1-2):73-80. Epub 2006 Oct 19. 2007
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.
Nucleosides Nucleotides Nucleic Acids 23(8-9):1141-5. 2004
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Silva M, Silva CH, Iulek J, Thiemann OH.
Biochemistry 43(24):7663-71. 2004
APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.
Crespillo J, Llorente P, Argomaniz L, Montero C.
Mol Cell Biochem 254(1-2):359-63. 2003
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of aprt.
Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A.
Mol Genet Metab 72(3):260-4. 2001
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.
Menardi C, Schneider R, Neuschmid-Kaspar F, Klocker H, Hirsch-Kauffmann M, Auer B, Schweiger M.
Hum Mutat 10(3):251-5. 1997
Deletion mapping of highly conserved transcribed sequence downstream from APRT locus.
Harwood J, et al.
Somat Cell Mol Genet 21 : 151-160. 1995
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
Sahota A, et al.
Hum Mutat 3 : 315-317. 1994
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
Sahota A, et al.
Hum Mol Genet 3 : 817-818. 1994
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
Kamatani N, et al.
J Clin Invest 90 : 130-135. 1992
2,8-dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
Sahota A, et al.
Am J Hum Genet 48 : 983-989. 1991
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
Chen J, et al.
Am J Hum Genet 49 : 1306-1311. 1991
Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population.
Chen J, et al.
Am J Hum Genet 47 : A152. 1990
Identification of a common mutation in Japanese patients with type I adenine phosphoribosyltransferase (APRT) deficiency.
Sahota A, et al.
Am J Hum Genet 47 : A165. 1990
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.
Kamatani N, et al.
Hum Genet 76 : 148-152. 1987
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Kamatani N, et al.
Hum Genet 75 : 163-168. 1987
A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23) (FRA16D) loci.
Fratini A, et al.
Cytogenet Cell Genet 43 : 10-13. 1986
Further evidence for regional localization of human APRT and DIA4 on chromosome 16.
Lavinha J, et al.
(HGM7) Cytogenet Cell Genet 37 : 517. 1984
Augmentation d'activité de l'adénine phosphoribosyl transferase chez un enfant trisomique 16q22.2-16qter par translocation t(16;21)(q22.2;q22.2) pat.
Réthoré MO, et al.
Ann Genet 25 : 36-42. 1982
The locus for human adenine phosphoribosyltransferase on chromosome 16.
Kahan B, et al.
Genetics 78 : 1143-1156. 1975
Gene dosage effect in human trisomy 16.
Marimo B, et al.
Nature 256 : 204-206. 1975
Assignment of a selectable gene: adenosine phosphoribosyltransferase to chromosome 16.
Tischfield JA, et al.
Cytogenet Cell Genet 13 : 167-172. 1974
Gout with adenine phosphoribosyltransferase deficiency.
Delbarre F, et al.
Biomedicine 21 : 82-85. 1974
Assignment of the gene for adenosine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.
Tischfield JA, et al.
Proc Natl Acad Sci U S A 71 : 45-49. 1974
Adenine phosphoribosyltransferase deficiency in man : report of a second family.
Fox IH, et al.
Am J Med 55 : 614-619. 1973