Article
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Proceedings of the National Academy of Sciences of the United States of America - 28 May 1996
Engle S J, Stockelman M G, Chen J, Boivin G, Yum M N, Davies P M, Ying M Y, Sahota A, Simmonds H A, Stambrook P J, Tischfield J A
Abstract excerpt
Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. Targeted homologous recombination in emb...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Alleles
- Animals
- Erythrocytes
- Fibrosis
- Homozygote
- Humans
- Inflammation
- Kidney
- Kidney Calculi
- Mice
- Mice, Knockout
- Necrosis
- Recombination, Genetic