Tom Van Agtmael

This study identifies HTRA1 deficiency in COL4A1 mutant astrocytes as a mechanism underlying BBB dysfunction in cerebral small vessel disease.

This paper identifies repurposed drugs that improve endothelial function in COL4A1-related disorders using in vitro and in vivo models.

This study identifies cognitive impairment and white matter defects in a mouse model of cerebral small vessel disease caused by Col4a1 mutations and shows that targeting protein folding can alleviate these issues.

This study shows that 4-phenylbutyric acid rescues molecular defects in COL3A1 mutations causing vEDS by reducing ER stress and improving collagen secretion.