Marcello Manfredi

This study uses human liver organoids to model Wolman disease, showing multicellular interactions drive disease features and therapeutic responses.

This study identifies Profilin 1 as a safeguard against genome doubling and polyploidy in cancer by showing its role in maintaining cell cycle fidelity and preventing therapeutic resistance.

This study investigates how rare genetic variants in PD patients affect mitochondrial lipid homeostasis and neuronal excitability using patient-derived dopaminergic neurons.

This study identifies a family of lncRNAs, including FRG2A, whose overexpression in FSHD patients disrupts nucleolar architecture and reduces protein synthesis, linking FSHD to muscle wasting.

This study shows that in Alzheimer's disease astrocytes, protein synthesis is impaired through PERK-independent p-eIF2 activation, linked to altered ER-mitochondria interactions, affecting homeostatic functions.

This study shows that deleting calcineurin in astrocytes leads to proteome changes resembling Alzheimer's and epilepsy, and increases seizure risk in mice.