Andrea Ballabio

This study establishes isogenic NPC1 and NPC2 models to reveal that HKDC1 regulates mitochondrial-lysosome contact in NPC1-deficient cells.

The paper shows UV exposure causes misfolded melanosomal proteins to aggregate, contributing to skin pigmentation disorders and melanocyte dysfunction.

This study shows that loss of CLN3 disrupts lysosomal lipid metabolism, leading to nuclear envelope lipid changes, DNA damage, and YAP1-driven apoptosis in Batten disease models.

This study determines the cryo-EM structure of mTORC1 on the lysosomal membrane, showing how growth factor and nutrient signals integrate through three-step recruitment and membrane engagement.

The paper uses a multiomic approach to study Retromer's role in lysosomal health in human neuroglioma cells, revealing proteomic and transcriptomic changes linked to neurodegeneration.