Unraveling the metabolic landscape of alkaptonuria through a human-relevant in vitro liver disease model
Matthias Rombaut, Gigly G. Del’haye, Sien Lequeue, Brendan P. Norman, Liesbeth Desmet, Nina Stefanie Salvi, Anja Heymans, Jessie Neuckermans, Juliette H. Hughes, Gamze Ates, Ann Massie, Tamara Vanhaecke, George Bou–Gharios, Joery De Kock
This study establishes a human-relevant HGD knockout hepatic in vitro model to investigate the metabolic consequences of alkaptonuria and identifies a chronic stress-adaptive survival state in HGD-deficient hepatocytes.
bioRxiv · Sep 29, 2026 · PreprintCell Biology