Marco Sardiello

BioMedGraphica integrates biomedical knowledge into a unified graph and introduces a Textual-Numeric Graph structure for multi-omics analysis.

This paper shows that CLN3 disease causes enteric nervous system degeneration in humans and mice, which can be prevented by neonatal gene therapy in mice.

OmniCellAgent autonomously retrieves and analyzes scRNA-seq datasets to generate structured reports and hypotheses across disease settings.

This study shows that TFEB-v-ATPase signaling regulates lysosomal function and microglial activation in tauopathy by impairing lysosomal acidification and altering microglia responses.

This study identifies an IKK/β-TrCP2 phosphorylation-ubiquitination cascade that regulates TFEB stability, independent of other regulators.

This paper shows gene therapy prevents bowel motility issues and enteric neuron loss in mouse models of lysosomal storage diseases.