Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.

  title={Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.},
  author={Emilie Boutet and Haquima El Mourabit and Matthieu Prot and Mona Nemani and Eliane Khallouf and Odile Colard and Mich{\`e}le Maurice and Anne-Marie Durand-Schneider and Yves Chr{\'e}tien and Sandra Gr{\'e}s and Claude Wolf and Jean-S{\'e}bastien Saulnier-Blache and Jacqueline Capeau and Jocelyne Magr{\'e}},
  volume={91 6},
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue and severe insulin resistance. In most cases, BSCL is due to loss-of-function mutations in the genes encoding either seipin of unknown function or 1-acyl-glycerol-3-phosphate O-acyltransferase 2 (AGPAT2) which catalyses the formation of phosphatidic acid from lysophosphatidic acid. We studied the lipid profile of lymphoblastoid cell-lines from 20 BSCL patients with null… CONTINUE READING


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