Brendan P. Norman

Unraveling the metabolic landscape of alkaptonuria through a human-relevant in vitro liver disease model

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.

Liver-directed AAV gene therapy metabolically corrects AKU in Hgd deficient mice

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.

Identification of novel bone-resorption markers by osteoclasts in vitro and in vivo

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.