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Author

A. McRae

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Open access Oct 2026

Biallelic BECN1 variants cause neurodevelopmental disorders via AMPA receptor dysregulation

Genetic regulation of neurodevelopmental disorders that impair brain development and social interaction is complex and poorly understood. Although emerging evidence suggests a link between neurodevelopmental disorders and autophagy deficits, congenital autophagy gene disorders are rare in humans, and underlying molecul...

K. Kuramoto, F. Ullah, P. Liang 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

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