Article
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Molecular genetics and metabolism - 1 Jan 2000
Dindo Mirco, Mandrile Giorgia, Conter Carolina, Montone Rosa, Giachino Daniela, Pelle Alessandra, Costantini Claudio, Cellini Barbara
Abstract excerpt
Primary Hyperoxaluria type I (PH1) is a rare disease caused by mutations in the AGXT gene encoding alanine:glyoxylate aminotransferase (AGT), a liver enzyme involved in the detoxification of glyoxylate, the failure of which results in accumulation of oxalate and kidney stones formation. The role of protein misfolding in the AGT deficit caused by most PH1-causing mutations is increasingly being recognized. In...
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