Juraj Koudelka

Col4a1 mutation in a mouse model of cerebral small vessel disease causes white matter defects that can be modulated by targeting protein folding.

Collagen IV, encoded by genes COL4A1/COL4A2, is a major component of the basement membrane, a specialised extracellular matrix (ECM) structure. Mutations in these genes cause a genetic form of cerebral small vessel disease (cSVD), a leading cause of stroke and dementia. White matter abnormalities are a hallmark of cSVD...