Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Y. Kargapolova, R. Rehimi, H. Kayserli, J. Bruehl, A. Zirkel, Y. Li, G. Yigit, A. Hoischen, S. Frank, N. Russ, J. Trautwein, M. Laugsch, E. G. Gusmao, N. Josipovic, J. Altmeuller, , A. Papantonis
The paper identifies a CHD6 mutation causing Hallermann-Streiff syndrome and shows it disrupts autophagy and DNA damage response through chromatin remodeling.
bioRxiv · Jan 27, 2020Cell Biology