CORDIS Project
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The project focuses on developing a treatment for primary hyperoxaluria, a genetic disorder caused by a deficiency in a specific enzyme. By utilizing pharmacological chaperones to stabilize the enzyme's active form, the project aims to provide a novel therapeutic approach for this orphan disease, which currently lacks…
Primary hiperoxaluria (PH-1) is a human genetic disease consisting on a deficiency of alanine-glyoxylateaminotransferase (AGT) activity in hepatocytes.
This enzyme metabolizes glyoxylate and a lack of its activity leads to an excessive production of oxalate.
Oxalate accumulation damages kidney and liver functions at first and other tissues and organs later.
This disease is lethal and no effective pharmacological treatment exists nowadays; renal and hepatic transplants become necessary to preserv…
UNIVERSIDAD DE GRANADA
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