Brendan P. Norman

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 study identifies 22 novel bone-resorption markers produced by osteoclasts in vitro and validates 14 in human biofluids, with two fragments elevated in bone metastasis urine.

This study shows that bile excretes homogentisic acid in alkaptonuria mice, both on and off nitisinone treatment, revealing a new pathway for metabolite elimination.