CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology
A. Sharaireh, M. Guevara Ferrer, S. Herranz-Martin, M. Garcia-Macia, A. Philips, A. Tierney, M. P. Hughes, O. Coombe-Tennant, H. Nelvagel, A. E. Burrows, S. Fielding, L. M. FitzPatrick, C. D. Thornton, S. Storch, S. E. Mole, , T. R. McKay
This study shows CLN7 mutations cause nuclear and endolysosomal protein distribution defects in Batten disease, leading to apoptosis and neuroinflammation, suggesting combinatorial therapies may be needed.
bioRxiv · Apr 21, 2022 · PreprintCell Biology