Eylan Yutuc

This study shows that deleting CH25H and LIPA genes in humans eliminates 25-hydroxycholesterol but not 7alpha,25-dihydroxysterols, and increases cholesterol oxidation, which is partially reversed by hematopoietic stem cell transplant.

The paper introduces a mass spectrometry sterolomic library to aid in diagnosing cholesterol-related inherited disorders by analyzing sterol profiles from 13 autosomal recessive disorders and predicting data for 8 more.

The paper develops a mass spectrometry imaging method to map sterol distributions in mouse brain tissue, revealing spatial cholesterol metabolism patterns in wild-type and cholesterol 24S-hydroxylase knock-out mice.

The paper identifies a novel bile acid biosynthesis pathway in Smith-Lemli-Opitz syndrome that bypasses cholesterol, starting from 7-dehydrocholesterol, and links intermediates to Hedgehog signaling.