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Article

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

Biomolecules - 29 Jan 2025

Trezza Alfonso, Roncaglia Bianca, Visibelli Anna, Barletta Roberta, Peruzzi Luana, Marzocchi Barbara, Braconi Daniela, Spiga Ottavia, Santucci Annalisa

Abstract excerpt

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 understood. Serum amyloid A (SAA) proteins are key mediators of the inflammatory response, yet their potential as...

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Identifiers

PMID: 40001497
DOI: 10.3390/biom15020194
PMCID: PMC11853296

Genes

SAA1

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