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M. Kendall

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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

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