Juliette H. Hughes

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.

This study demonstrates that liver-directed AAV gene therapy corrects metabolic defects in Hgd-deficient mice by restoring HGD expression and reducing HGA levels without hypertyrosinemia.

This paper presents an anatomical study of alkaptonuria, revealing novel insights into ochronotic pigmentation in various tissues and highlighting differences in pigmentation patterns across different anatomical locations.