Alessandro Prigione

The paper identifies PKR as a critical mediator of mitochondrial neuropathology in a mouse model of Leigh syndrome, showing its role in neuroinflammation and disease progression.

This study edits mtDNA variants in human iPSCs to show that heteroplasmic complex I variants impair neuronal commitment.

This study shows that canonical autophagy remains inactive in iPSCs and NPCs under DNA damage, despite a functional autophagy machinery and responsive DNA damage response.

KG-Bench benchmarks graph neural networks for drug repurposing using the Open Targets dataset, finding TransformerConv achieves the highest performance.

CleanFinder is a scalable framework for analyzing genome editing outcomes, enabling detailed genotyping and comparison across diverse edit types and contexts.

The paper develops a curated marker framework to identify early human developmental states and introduces a web tool for automated fate classification.

This study shows that mutant Huntingtin causes neurodevelopmental issues in human brain organoids by disrupting CHCHD2, leading to mitochondrial and metabolic problems.

The paper identifies repurposable drugs for mitochondrial disease by using deep learning to screen for compounds that improve neuronal commitment and neurogenesis in Leigh syndrome organoids.

The paper investigates PGBD1's role in neuronal progenitor identity, stress sensing, and mammal-specific paraspeckles, showing its dual function in DNA binding and protein interaction.

This study shows SURF1 mutations impair human neurogenesis by generating patient-derived iPS cells and demonstrating defects in neuronal differentiation and bioenergetics.