CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.
The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.
Vera Garloff, M. Grimmel, R. Maroofian et al.
· EBioMedicine · 0 citations