Open access
Sep 2026
TRAF7 mutations stabilize K/NRAS and hyperactivate MAPK signaling to cause CAFDADD neurodevelopmental defects
The MAPK-ERK1/2 pathway plays a crucial role in neurodevelopment during embryogenesis, and the hyperactivation of this signaling cascade serves as a pathological hallmark for various neurodevelopmental disorders. Germline variants in TRAF7, encoding a RING-type E3 ubiquitin ligase, are genetically associated with cardi...
Man Xiao, Yang Liu, Xiao-Zhen Song et al.
· Science Advances · 0 citations