Francesca Mastropasqua

Transcriptomic-guided compound prioritization and proteomics validation for HNRNPU deficiency identify signalling correction

The paper develops a transcriptomic-guided compound prioritization pipeline and validates it with proteomics, identifying two compounds that partially rescue HNRNPU deficiency phenotypes.

Molecular interactome of HNRNPU reveals regulatory networks in neuronal differentiation and DNA methylation

The paper investigates the molecular interactome of HNRNPU, revealing its role in neuronal differentiation and DNA methylation through integration of PPI, RNA targets, and methylation data.

Chromatin-associated intronic RNAs from long genes form introsomes that shape nuclear architecture in neuronal cells

The paper identifies trans-contacting intronic RNAs (TIRs) in neuronal cells that form nuclear scaffolds called introsomes, influencing 3D genome organization and gene expression.

Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis

This study shows that HNRNPU deficiency causes chromatin remodeling, transcriptional changes, and delayed neurogenesis in hindbrain-derived neural progenitors.

Screening autism-associated environmental factors in differentiating human neural progenitors with fractional factorial design-based transcriptomics

This study uses fractional factorial design to screen environmental factors on neural progenitors, identifying pathway-level changes linked to autism risk.

Circular RNAs arising from synaptic host genes are modulated by SFPQ RNA-binding protein and increased during human neuronal differentiation

The paper identifies circRNAs from synaptic host genes in human neuronal differentiation and shows SFPQ regulates their expression.

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

This study investigates the effects of CASK mutations in human neurons derived from iPSCs, showing reduced CASK protein and altered presynaptic development, with implications for excitatory-inhibitory balance.