George Bou–Gharios

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.

Loss of CD109 Amplifies NF-κB Signaling and Inflammatory Reprogramming in Dermal Fibroblasts

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

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.

Collagen fibril formation at the plasma membrane occurs independently from collagen secretion

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

Sex specific knee joint soft tissue mineralization with Fibrillin-1 mutation in male Tight Skin mice.

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.

Skeletal progenitor LRP1 deficiency causes severe and persistent skeletal defects with WNT/planar cell polarity dysregulation.