Ilaria Fregno

This study shows that the Neuroserpin Portland variant is cleared via ERLAD, dependent on persistent glucosylation and specific proteins like Calnexin and FAM134B.

The paper identifies a novel role for ER-phagy receptor FAM134B in MCS between ER and endolysosomes in promoting ERLAD of misfolded proteins.

The paper shows that increasing GCase activity reduces Tau accumulation in fibroblasts with GBA1 mutations, suggesting it could be a therapeutic strategy for neurodegenerative diseases.

This paper develops two allosteric GCase correctors that improve folding and lysosomal function in GD patient fibroblasts, reducing cellular stress and offering potential therapy for GD, PD, and Dementia with Lewy Bodies.