Author

Matthias Rombaut

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Open access Sep 2026

Unraveling the metabolic landscape of alkaptonuria through a human-relevant in vitro liver disease model

Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine catabolism caused by a deficient homogentisate 1,2-dioxygenase (HGD) enzyme. This results in the accumulation of homogentisic acid (HGA), driving a progressive multisystem pathology characterized by debilitating early-onset osteoarthritis due to conn...

Matthias Rombaut, Gigly G. Del'haye, Sien Lequeue et al. · bioRxiv · 0 citations

Jul 2026

Human stem cell-derived hepatic cells recapitulate polygenic risk in MASLD development and highlight CD36 as a key mediator.

Several genetic variants have been identified that impact outcomes in patients with metabolic dysfunction-associated steatohepatitis (MASH), but cellular platforms to identify molecular targets for treatment remain scarce. This study aims to employ a polygenic risk score for hepatic fat content (PRS-HFC) in a human-bas...

A. Gatzios, M. Stinckens, A. Verhoeven et al. · Life Science · 0 citations