C12ORF54 mediates lipid droplet delivery to lysosomes with mutation causing childhood-onset metabolic dysfunction-associated steatotic liver disease.
Cellular lipid droplet (LD) turnover is essential for metabolic homeostasis in liver, and failures in LD clearance are increasingly linked to fatty liver disease. We describe a previously unrecognized mechanism of LD turnover and a human disorder caused by its disruption. A 2-year-old boy with metabolic dysfunction-ass...