Cell BiologybioRxivPreprint
CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology
A. Sharaireh, M. Guevara Ferrer, S. Herranz-Martin…·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.
DOI 10.1101/2022.04.21.488782