Author

F. Alkuraya

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#protein folding Open access Oct 2026

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

Open access Jul 2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Functional modelling in zebrafish confirms a loss‑of-function mechanism and highlights species‑dependent differences specifically in the impact of the missense variant on protein function, and provides a cautionary tale about overreliance on animal models as a screening tool for variant classification.

H. Shamseldin, Dana Marafi, Mohammed A Al-Muhaizea et al. · Scientific Reports · 0 citations