Towards a mechanistic understanding of lipodystrophy and seipin functions

  title={Towards a mechanistic understanding of lipodystrophy and seipin functions},
  author={Kenneth Wee and W. Yang and S. Sugii and W. Han},
  journal={Bioscience Reports},
  • Kenneth Wee, W. Yang, +1 author W. Han
  • Published 2014
  • Biology, Medicine
  • Bioscience Reports
  • 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… CONTINUE READING
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    Publications referenced by this paper.
    Pathology of Congenital Generalized Lipodystrophy in Agpat2–/– Mice
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    Seipin: from human disease to molecular mechanism
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    • Open Access