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Author

Abhishek Kumar

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Sep 2026

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...

Ashish Negi, Abhishek Kumar, Y. Mathuria et al. · 0 citations

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