Gigly G. Del’haye

This study engineers HPD variants with enhanced NTBC tolerance to restore tyrosine metabolism while maintaining catalytic activity and MHC-II binding properties.

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.