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Norway

PMID:29459250  

Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease.

George D Mcilroy | Karla Suchacki | Anke J Roelofs | Wulin Yang | Yanyun Fu | Bo Bai | Robert J Wallace | Cosimo De Bari | William P Cawthorn | Weiping Han | Mirela Delibegović | Justin J Rochford
Molecular metabolism | 2018

Mutations to the BSCL2 gene disrupt the protein seipin and cause the most severe form of congenital generalised lipodystrophy (CGL). Affected individuals exhibit a near complete loss of white adipose tissue (WAT) and suffer from metabolic disease. Seipin is critical for adipocyte development in culture and mice with germline disruption to Bscl2 recapitulate the effects of BSCL2 disruption in humans. Here we examined whether loss of Bscl2 specifically in developing adipocytes in vivo is sufficient to prevent adipose tissue development and cause all features observed with congenital BSCL2 disruption.

Pubmed ID: 29459250

Research resources used in this publication

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Antibodies used in this publication

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Associated grants

  • Agency: Medical Research Council, United Kingdom
    Id: MR/L002620/1
  • Agency: Medical Research Council, United Kingdom
    Id: MR/L022893/1
  • Agency: British Heart Foundation, United Kingdom
    Id: PG/14/43/30889
  • Agency: Medical Research Council, United Kingdom
    Id: MC_PC_15077
  • Agency: Medical Research Council, United Kingdom
    Id: MC/PC/1507
  • Agency: Medical Research Council, United Kingdom
    Id: MR/M021394/1
  • Agency: Biotechnology and Biological Sciences Research Council, United Kingdom
    Id: BB/K017772/1

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GraphPad Prism (tool)

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International Mouse Phenotyping Consortium (IMPC) (tool)

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