Integrated Clinomics and Molecular Dynamics Simulation Approaches Reveal the SAA1.1 Allele as a Biomarker in Alkaptonuria Disease Severity

Alkaptonuria (AKU) is a rare metabolic disorder characterized by the accumulation of homogentisic acid (HGA), leading to progressive ochronosis and joint degeneration. While much is known about HGA’s role in tissue damage, the molecular mechanisms underlying acute inflammation in AKU remain poorly u...

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Bibliographic Details
Published in:Biomolecules
Main Authors: Alfonso Trezza, Bianca Roncaglia, Anna Visibelli, Roberta Barletta, Luana Peruzzi, Barbara Marzocchi, Daniela Braconi, Ottavia Spiga, Annalisa Santucci
Format: Article
Language:English
Published: MDPI AG 2025-01-01
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Online Access:https://www.mdpi.com/2218-273X/15/2/194