Missense mutations in the MLKL brace region lead to lethal neonatal inflammation in mice and are present in high frequency in humans.
J. Hildebrand, M. Kauppi, I. Majewski, Z. Liu, A. Cox, S. Miyake, C. Hall, E. Petrie, M. Silk, M. Tanzer, S. Young, S. Garnish, J. Corbin, M. Stutz, P. Gangatirkar, , Venhoff
This study identifies a missense mutation in MLKL causing lethal neonatal inflammation in mice and links it to increased frequency in human autoinflammatory disease.
bioRxiv · May 15, 2019 · PreprintCell Biology