Article
Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms.
Diabetologia - 1 Nov 2013
Sim M F Michelle, Talukder M Mesbah Uddin, Dennis Rowena J, O'Rahilly Stephen, Edwardson J Michael, Rochford Justin J
Abstract excerpt
AIMS/HYPOTHESIS: In humans, disruption of the gene BSCL2, encoding the protein seipin, causes congenital generalised lipodystrophy (CGL) with severe insulin resistance and dyslipidaemia. While the causative gene has been known for over a decade, the molecular functions of seipin are only now being uncovered. Most pathogenic mutations in BSCL2 represent substantial disruptions including significant deletions and...
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