Museer A. Lone

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 study creates a mouse model with a heterozygous deletion of Sptlc1 exon 2 and finds no motor defects or ALS-like neuropathology, but homozygous mutants die prematurely.

This study compares the metabolic consequences of SPTLC1 and SPTLC2 mutations in different neuropathies, revealing distinct sphingolipid flux patterns associated with ALS, HSAN1, and mixed sensory-motor phenotypes.

This study shows ANGPTL3 inhibits endothelial lipase-mediated LDL transport through aortic endothelial cells, which may explain mixed effects on ASCVD risk.

This study identifies SPTLC3's role in integrating bile acid-FXR signaling with sphingolipid remodeling in MASLD, showing its dysregulation in human liver and association with disease.