Marieke Smit

This study identifies COPI coatomer subunits that regulate LDL receptor activity, apoB secretion, and hepatic lipid storage, with genetic variants linked to elevated LDL-C levels.

This paper develops targeted mass spectrometry assays to detect and quantify endogenous ORF1p and ORF2p proteins, demonstrating sensitive and robust quantitation of ORF2p for the first time.

This study shows that hepatic VPS35 deficiency disrupts lysosomal cholesterol metabolism, leading to increased cholesterol levels in plasma and liver.