Article
Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in <i>C. elegans</i>
2023-09-24
Abstract excerpt
Maintaining the metabolic homeostasis of fatty acids is crucial for human health. Excess fatty acids are stored in lipid droplets (LDs), the primary energy reservoir that helps regulate fat and lipid homeostasis in nearly all cell types. Seipin (BSCL2), a conserved endoplasmic reticulum protein, plays a critical role in LD biogenesis and regulating LD morphology. Pathogenic variants of seipin are associated with m...
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Identifiers and source
- Literature Corpus work
- f9f75d4f-5bda-5eb9-b0f2-87924aeaf2e3
- DOI
- 10.1101/2023.09.22.559059
