George Bou–Gharios

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 shows that loss of CD109 enhances NF-κB signaling and inflammatory reprogramming in dermal fibroblasts, contributing to skin inflammation in systemic sclerosis.

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.

The paper investigates collagen fibril formation in fibroblasts, showing it occurs at the plasma membrane independently of secretion and involves endocytosis.

This study investigates sex-specific effects of Fibrillin-1 mutation on knee joint mineralization and osteoarthritis in TSK mice, finding increased pathology in males compared to females.

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