Article

MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome

2023-10-02

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a neurodevelopmental disorder caused by genetic mutations in the DHCR7 gene, which encodes the enzyme 3β-hydroxysterol-Δ 7 -reductase (DHCR7) that catalyzes the last step of cholesterol synthesis, resulting in deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC). To understand how the brain regions are differentially affected by the defect...

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Literature Corpus work: 6ac4af0c-abe4-5b4d-a0a6-4a015f7afad4
DOI: 10.1101/2023.10.02.560415

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