Publications

The outer blood-retinal barrier (oBRB) is compromised in several retinal pathologies, such as age-related macular degeneration affecting over 200 million people worldwide. This 200-350 μm thick tissue includes the retinal pigment epithelium (RPE), the Bruch's membrane, and the vascularized choroi...

Glycogen storage disease type III (GSDIII) is a rare genetic disorder leading to abnormal glycogen storage in the liver and skeletal muscle. In this study, we conducted a comparative gene expression analysis of several in vitro and in vivo models and identified galectin-3 as a potential biomarker...

Limb-girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles. This study aimed to...