A deregulated stress response underlies distinct INF2 associated disease profiles
S. Bayraktar, J. Nehrig, E. Menis, K. Karli, A. Janning, T. Struk, J. Halbritter, U. Michgehl, M. P. Krahn, C. Schuberth, H. Pavenstädt, R. Wedlich-Soldner
The paper identifies distinct disease profiles caused by INF2 mutations through cellular profiling, showing varying stress responses and linking them to FSGS and CMT.
bioRxiv · Nov 12, 2019Cell Biology