Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy.

@article{Danpure1995AdvancesIT,
  title={Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy.},
  author={Christopher J. Danpure},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={1995},
  volume={10 Suppl 8},
  pages={24-9}
}
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inborn error of glyoxylate metabolism caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). At the enzymic level, PH1 is usually heterogeneous. Several novel enzymic phenotypes have been identified, including the mistargeting of AGT from the peroxisomes to mitochondria, and the aggregation of AGT in the peroxisomal matrix. Seven PH1-specific point mutations, as well as a number of… CONTINUE READING
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