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- W1964183737 abstract "CGL (Congenital generalized lipodystrophy) is a genetic disorder characterized by near complete loss of adipose tissue along with increased ectopic fat storage in other organs including liver and muscle. Of the four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss of both metabolic and mechanical adipose depots. The majority of Seipin mutations cause C-terminal truncations, along with a handful of point mutations. Seipin localizes to the ER and is composed of a conserved region including a luminal loop and two transmembrane domains, plus cytosolic N- and C-termini. Animal models deficient in seipin recapitulate the human lipodystrophic phenotype. Cells isolated from seipin knockout mouse models also exhibit impaired adipogenesis. Mechanistically, seipin appears to function as a scaffolding protein to bring together interacting partners essential for lipid metabolism and LD (lipid droplet) formation during adipocyte development. Moreover, cell line and genetic studies indicate that seipin functions in a cell-autonomous manner. Here we will provide a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis. We will also discuss the roles of seipin-interacting partners, including lipin 1 and 14-3-3β, in mediating seipin-dependent regulation of cellular pathways such as actin cytoskeletal remodelling." @default.
- W1964183737 created "2016-06-24" @default.
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- W1964183737 date "2014-10-01" @default.
- W1964183737 modified "2023-10-14" @default.
- W1964183737 title "Towards a mechanistic understanding of lipodystrophy and seipin functions" @default.
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- W1964183737 doi "https://doi.org/10.1042/bsr20140114" @default.
- W1964183737 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4182903" @default.
- W1964183737 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25195639" @default.
- W1964183737 hasPublicationYear "2014" @default.
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