Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome
A. B. Abildgaard, A. Stein, S. V. Nielsen, K. Schultz-Knudsen, E. Papaleo, A. Shrikhande, E. R. Hoffmann, I. Bernstein, A.-M. Gerdes, M. Takahashi, C. Ishioka, K. Lindorff-Larsen, R. Hartmann-Petersen
The paper identifies structural destabilization and degradation of MLH1 variants in Lynch syndrome, linking reduced cellular levels to loss-of-function and suggesting stability predictions for diagnostic use.
bioRxiv · Oct 13, 2019Biochemistry