Author

C. Cambria

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Open access Aug 2026

Phenotyping iPSC-derived neurons from Angelman patients and partial rescue via JNK pathway inactivation

Angelman Syndrome (AS, MIM #105,830) is a rare neurodevelopmental disorder caused by imprinting defects, and it is marked by motor impairment, intellectual disability, speech limitations, and seizures. The condition arises due to the loss of function in neurons of the maternally-inherited UBE3A gene, mapping in the imp...

Valentina Alari, C. Cambria, C. De Cesari et al. · Journal of Neurodevelopmenta... · 0 citations

Open access Jun 2026

CRISPR/Cas9-mediated PHOX2B functional knock-out in IMR32 neuroblastoma cells impairs neuronal excitability through dysregulation of ion channels genes

The data establish the PHOX2B functional knockout neuroblastoma model as a valuable platform for functional genomics, enabling systematic analysis of PHOX2B targets and highlighting its critical role in coordinating transcriptional programs that shape neuronal excitability and maturation.

Silvia Cardani, Martina Bertocchi, E. Donà et al. · Frontiers in Physiology · 0 citations