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

• Main Authors: George D. Mcilroy (Author), Karla Suchacki (Author), Anke J. Roelofs (Author), Wulin Yang (Author), Yanyun Fu (Author), Bo Bai (Author), Robert J. Wallace (Author), Cosimo De Bari (Author), William P. Cawthorn (Author), Weiping Han (Author), Mirela Delibegović (Author), Justin J. Rochford (Author)
• Format: Book
• Published: Elsevier, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: 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 developm...