Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

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 u...

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Detalles Bibliográficos
Autores principales: Sim, M. F. Michelle, Talukder, M. Mesbah Uddin, Dennis, Rowena J., O’Rahilly, Stephen, Edwardson, J. Michael, Rochford, Justin J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824349/
https://www.ncbi.nlm.nih.gov/pubmed/23989774
http://dx.doi.org/10.1007/s00125-013-3029-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824349/
https://www.ncbi.nlm.nih.gov/pubmed/23989774
http://dx.doi.org/10.1007/s00125-013-3029-3

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