Cerebral small vessel disease due to Col4a1 mutations include cognitive impairment and white matter defects that can be modulated by targeting protein folding.
Gaia Brezzo, Alexandra V. Pokhilko, Jon Moss, Juraj Koudelka, Maurits A. Jansen, Ross J. Lennen, Gerard Thompson, Nela Fialova, Sofia Marina Konstantinidou, Joyce L.W. Yau, Erin Boland, Anna Williams, Stuart McRae Allan, Alessandra Granata, Sanjay Sinha, , Karen J. Horsburgh
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.
bioRxiv · Apr 4, 2025 · PreprintNeuroscience