Mattia Pitasi

The paper identifies Wt1 splice isoforms as regulators of lineage-associated transcriptional programs during formative pluripotency, showing that alternative splicing tunes lineage bias.

This study shows that GCase deficiency in microglia leads to metabolic changes and ATP depletion, impairing their neuroprotective functions and increasing neuronal vulnerability in Parkinson's disease.

The paper shows that enhancer cooperativity can compensate for reduced activity over large genomic distances by introducing weak enhancers between strong enhancers and promoters.

The paper maps enhancer-promoter interactions from mouse neural stem cells to the human genome, identifying disease-associated variants that affect enhancer function in neurodevelopmental disorders.