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.

Background Pitt-Hopkins Syndrome (PTHS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene. It is characterized by intellectual disability, distinctive facial features, breathing abnormalities, and gastrointestinal dysfunction. While the role of TCF4 in central nervous system developmen...

M. Orefice, Francesca Remondino, Irene Pieraccioni et al. · Frontiers in Cell and Develo... · 0 citations

Open access Sep 2026

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

Pathogenic variants in RUBCN, encoding the Run domain Beclin-1 interacting and cysteine-rich domain-containing protein (Rubicon) have been implicated in autosomal recessive spinocerebellar ataxia 15 (SCAR15). However, the molecular mechanisms underlying disease pathogenesis remain poorly understood. Here, we report 18...

S. Efthymiou, K. Tabata, H. Dafsari et al. · medRxiv · 0 citations