Pervasive mislocalization of pathogenic coding variants underlying human disorders
J. Lacoste, M. Haghighi, S. Haider, Z.-Y. Lin, D. Segal, C. Reno, W. W. Qian, X. Xiong, H. Shafqat-Abbasi, P. Ryder, R. Senft, B. Cimini, F. Roth, M. Calderwood, D. Hill, , M. Taipale
The paper develops a high-throughput imaging platform to assess the functional impact of missense variants on protein localization, finding that mislocalization is common in pathogenic variants.
bioRxiv · Sep 5, 2023Cell Biology