2024
DOI: 10.3390/cells13121072
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Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform

Maria Serena Milella,
Michela Geminiani,
Alfonso Trezza
et al.

Abstract: 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 different pathways, mostly involved in the onset and propagation of oxidative stress and inflammation,… Show more

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