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Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform

20 Jun 2024

Abstract excerpt

Alkaptonuria (AKU) is a genetic disorder that affects connective tissues of several body compartments causing cartilage degeneration, tendon calcification, heart problems, and an invalidating, early-onset form of osteoarthritis. The molecular mechanisms underlying AKU involve homogentisic acid (HGA) accumulation in cells and tissues. HGA is highly reactive, able to modify several macromolecules, and activates...

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PMID: 38920699
DOI: 10.3390/cells13121072

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