Francesca Amati

Alternative exon splicing reveals hidden mitochondrial targeting of PLIN3

The paper identifies an alternative splicing event in PLIN3 that generates a mitochondrial-targeted transcript, PLIN3B, which is unstable and not detectable as endogenous protein.

Organelle-specific lipid profiles influence/underlie metabolic health in a nutrition-dependent manner

This study shows that dietary fat affects mitochondrial and lipid droplet lipid profiles in skeletal muscle, with specific lipid classes linked to metabolic health and insulin resistance.

Narcolepsy with cataplexy is caused by epigenetic silencing of hypocretin neurons

The paper shows that narcolepsy with cataplexy is caused by epigenetic silencing of hypocretin neurons, not their destruction, using QRFP as a marker and methylation analysis.