Adenine Phosphoribosyltransferase

11/01/1973 - "Erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome."
01/01/1978 - "Effect of blood transfusion on activities of hypoxanthineguanine phosphoribosyltransferase (E.C.2.4.2.8.) and adenine phosphoribosyltransferase (E.C.2.4.2.7.) in cirulating red blood cells of a patient with Lesch-Nyhan syndrome."
06/01/2004 - "Lesch-Nyhan syndrome is a disorder caused by congenital absence of the enzyme hypoxanthineguanine phosphoribosyltransferase and an increase of the enzyme activity of adenine phosphoribosyltransferase. "
06/01/1980 - "Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells."
01/01/1973 - "Resistance of erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome to destabilization to heat by hypoxanthine."

01/01/1994 - "This is an infrequent but potentially serious form of lithiasis, of purinic origin, caused by a genetic abnormality (deficit of adenine phosphoribosyltransferase, APRT) affecting both sexes. "
09/01/1974 - "[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]."
05/01/1991 - "All reported cases of 2,8-dihydroxyadenine (DHA) lithiasis have been due to functional homozygous deficiency of adenine phosphoribosyltransferase (APRT). "
05/01/1991 - "2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus."
12/01/1988 - "The data thus obtained indicated that 76 families had 2,8-dihydroxyadenine lithiasis and of 51 families in which adenine phosphoribosyltransferase activities were assayed 76 per cent were only partially deficient in adenine phosphoribosyltransferase activities. "

03/01/1972 - "Adenine phosphoribosyltransferase activities of mouse ascites tumors and derived tumorigenic and nontumorigenic tissue culyures."
09/01/1966 - "2. The specific activities of both adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase in ascites-tumour cells decreased respectively by 57% and 36% 2 days after the cells had been inoculated into mice. "
09/01/1966 - "1. The activities of adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase in extracts of rat and mouse liver, brain, spleen, heart and kidney, of rat bone marrow and of Ehrlich ascites-tumour cells have been measured. "
04/01/1967 - "Studies on the nature of the regulation by purine nucleotides of adenine phosphoribosyltransferase and of hypoxanthine phosphoribosyltransferase from Ehrlich ascites-tumour cells."
09/01/1966 - "2. The reaction of 5'-phosphoribosyl pyrophosphate with adenine phosphoribosyltransferase from ascites-tumour cells (K(m) 6.5-11.9mum) was competitively inhibited by AMP, ADP, ATP and GMP (K(i) 7.5, 21.9, 395 and 118mum respectively). "

11/01/1998 - "Carrier testing was performed in 35 women belonging to 16 unrelated Spanish families with at least one subject affected by the Lesch-Nyhan syndrome (11 families, 14 patients) or the Kelley-Seegmiller syndrome (five families, six patients) by means of HPRT and adenine phosphoribosyltransferase activities in hair follicles and/or molecular studies. "

06/22/2004 - "Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis."
10/01/1998 - "[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]."
01/01/1981 - "Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase."
06/07/1980 - "Complete lack of adenine phosphoribosyltransferase (APRT) is a not uncommon cause of urinary lithiasis in young children. "
06/07/1980 - "[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]."