Federica Zinghirino

This study develops a clinical-compliant framework for ex vivo CRISPR/Cas9 gene editing of HSPCs to correct WAS, showing improved engraftment and a favorable safety profile with minimal off-target effects.

The paper develops a CRISPR/Cas9-based gene editing strategy to correct IL7R-SCID in T cells and HSPCs, restoring IL7R expression and T cell development.

The paper investigates VDAC pseudogenes, showing VDAC1P8 is over-expressed in AML and correlated with reduced VDAC1 expression.

The paper analyzes the expression profiles, promoter activity, and transcriptional regulators of human VDAC1-3 genes, revealing distinct regulatory mechanisms and biological functions for each isoform.

Stealth α-synuclein fibrils escape ThT detection, outcompete visible polymorphs, and spread neurodegeneratively in vivo.

The paper investigates how NRF-1 and HIF-1α regulate VDAC1 promoter activity under starvation and hypoxia in HeLa cells, showing increased transcription under stress conditions.