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R. Kaiyrzhanov

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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. · 0 citations
Open access Sep 2026

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.

S. Efthymiou, K. Tabata, H. Dafsari et al. · 0 citations
Open access Jul 2026

Whole-Exome Sequencing Utility and Drug Resistance in a Real-World Epilepsy Cohort from Southern Kazakhstan

The observed burden of DRE and polytherapy supports the potential value of integrating therapeutic profiling, neuroimaging, and genomic testing in the etiological evaluation of patients with epilepsy and additional neurological features.

I.A. Doszhanov, Sandugash Rustemova, Nigara Yerkhojayeva et al. · 0 citations

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