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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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Principais autores: Alfonso Trezza, Bianca Roncaglia, Anna Visibelli, Roberta Barletta, Luana Peruzzi, Barbara Marzocchi, Daniela Braconi, Ottavia Spiga, Annalisa Santucci
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2025-01-01
Serier:Biomolecules
Fag:
AKU
clinomics
biomarker
SAA1.1
molecular dynamics simulation
molecular modeling
Online adgang:https://www.mdpi.com/2218-273X/15/2/194
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