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- Title
The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.
- Authors
Payne, Victoria A; Grimsey, Neil; Tuthill, Antoinette; Virtue, Sam; Gray, Sarah L; Dalla Nora, Edoardo; Semple, Robert K; O'Rahilly, Stephen; Rochford, Justin J
- Abstract
Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue. Remarkably, although the causative gene, BSCL2, has been known for several years, its molecular function and its role in adipose tissue development have not been elucidated. Therefore, we examined whether BSCL2 is involved in the regulation of adipocyte differentiation and the mechanism whereby pathogenic mutations in BSCL2 cause lipodystrophy.
- Publication
Diabetes, 2008, Vol 57, Issue 8, p2055
- ISSN
1939-327X
- Publication type
Journal Article
- DOI
10.2337/db08-0184