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Author

A. Vitobello

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#gene editing Open access Sep 2026

TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome

Light is shed on TCF4 as a key regulator of neural crest-derived lineages that contribute to craniofacial and Enteric Nervous System development and a new perspective on two major clinical features of PTHS is provided.

M. Orefice, Francesca Remondino, Irene Pieraccioni 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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