Structural modelling predicts that fibrocystin destabilisation is a pathogenic cause of ARPKD
Travis Bannell, Naveen Mathew, Kathrin Burgmaier, Max C. Liebau, Colin A. Johnson, Joseph J. B. Cockburn
The paper uses structural modeling to show that fibrocystin destabilization due to PKHD1 missense mutations is a key pathogenic mechanism in ARPKD, suggesting stabilization as a therapeutic target.
bioRxiv · Oct 20, 2026 · PreprintCell Biology