Article
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Biochimica et biophysica acta - 1 Jun 2016
Fargue Sonia, Knight John, Holmes Ross P, Rumsby Gill, Danpure Christopher J
Abstract excerpt
The hereditary kidney stone disease primary hyperoxaluria type 1 (PH1) is caused by a functional deficiency of the liver-specific, peroxisomal, pyridoxal-phosphate-dependent enzyme, alanine:glyoxylate aminotransferase (AGT). One third of PH1 patients, particularly those expressing the p.[(Pro11Leu; Gly170Arg; Ile340Met)] mutant allele, respond clinically to pharmacological doses of pyridoxine. To gain further...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
